Chromosome 1
761 well-documented SNPs on chromosome 1, in order of position (GRCh38).
- rs9701779LOC101928626 · 629,994A;Acommon in complete genomicsTypical
- rs9701055LOC101928626 · 630,053C;Ccommon in complete genomicsTypical
- rs1972379LOC100288578 · 632,317A;Acommon in complete genomicsTypical
- rs9645429LOC100288418 · 634,224G;Gcommon in complete genomicsTypical
- rs786201005ISG15 · 1,014,143C;TCarrier of an immunodeficiency mutationImportant
- rs1921ISG15 · 1,014,228G;Gcommon in clinvarTypical
- rs672601345ISG15 · 1,014,319-;GCarrier of an immunodeficiency mutationImportant
- rs672601312ISG15 · 1,014,359G;TCarrier of an immunodeficiency mutationImportant
- rs3753242PRKCZ · 2,138,242C;Ccommon on affy axiom dataTypical
- rs6684865MMEL1 · 2,614,790A;A1.5x risk of rheumatoid arthritisTypical
- rs3890745MMEL1 · 2,622,185T;T1.12x risk of Rheumatoid arthritisTypical
- rs2651899PRDM16 · 3,167,148C;C1.2x higher risk for migrainesMinor
- rs17472401NPHP4 · 5,880,183G;Gcommon in complete genomicsTypical
- rs10489535ACOT7 · 6,283,765G;GNo summary available.Typical
- rs10462020PER3 · 7,820,623T;Tcommon/normalTypical
- rs228697PER3 · 7,827,519C;GSomewhat more likely to prefer staying up lateWorth knowing
- rs10462021PER3 · 7,837,073G;GStrong association with DSPSImportant
- rs75202928,257,898C;Ccommon in complete genomicsTypical
- rs11121179RERE · 8,395,652G;GNo summary available.Typical
- rs4908760RERE · 8,466,082A;Gcommon in complete genomicsTypical
- rs6688832H6PD · 9,263,851G;Gcommon in clinvarTypical
- rs17368528H6PD · 9,264,154C;Ccommon on affy axiom dataTypical
- rs10492972KIF1B · 10,293,054C;Cconflicting reports; possible slight increased risk for multiple sclerosisTypical
- rs1002076KIF1B · 10,378,834G;Gcommon in clinvarTypical
- rs2003046C1orf127 · 10,972,770A;A0.57x lower risk of Male Pattern Baldness.Worth knowing
- rs4884357TARDBP · 11,022,301G;Gcommon in clinvarTypical
- rs12711521TARDBP · 11,030,859C;Ccommon in clinvarTypical
- rs72550870MASP2 · 11,046,609C;TCarrier for a variant possibly associated with MASP2 deficiencyImportant
- rs2536MTOR · 11,106,656T;Tcommon genotypeTypical
- rs17036350MTOR · 11,111,169C;Ccommon in complete genomicsTypical
- rs484603311,728,507G;Gcommon on affy axiom dataTypical
- rs4846048MTHFR · 11,786,195G;Gcommon in clinvarTypical
- rs3737967C1orf167 · 11,787,392G;Gcommon in clinvarTypical
- rs1537514MTHFR · 11,788,011G;Gcommon in clinvarTypical
- rs868014C1orf167 · 11,789,390A;Acommon in clinvarTypical
- rs4846049MTHFR · 11,790,308T;Tcommon in clinvarTypical
- rs2274976MTHFR · 11,790,870C;Ccommon in complete genomicsTypical
- rs1476413MTHFR · 11,792,243C;Ccommon/normalTypical
- rs17375901MTHFR · 11,792,459C;Ccommon on affy axiom dataTypical
- rs4846051MTHFR · 11,794,400A;Acommon in complete genomicsTypical
- rs1801131MTHFR · 11,794,419G;GNumber of risks. Complex.Worth knowing
- rs2066462MTHFR · 11,794,839G;Gcommon in clinvarTypical
- rs1801133MTHFR · 11,796,321A;Ahomozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levelsWorth knowing
- rs17037396MTHFR · 11,801,990C;CNo summary available.Typical
- rs17367504MTHFR · 11,802,721G;Greduction in blood pressureMinor
- rs2066470MTHFR · 11,803,000G;Gcommon in clinvarTypical
- rs13306560CLCN6 · 11,806,126C;CNo summary available.Typical
- rs3737965CLCN6 · 11,806,394G;Gcommon in complete genomicsTypical
- rs17376328CLCN6 · 11,816,605A;Alower blood pressureTypical
- rs198358NPPA-AS1 · 11,844,019T;TnormalTypical
- rs5068NPPA-AS1 · 11,845,917A;ANo summary available.Typical
- rs5067NPPA · 11,845,924A;AnormalTypical
- rs5065NPPA · 11,846,011A;A1.12x risk on diuretic; if hypertensive, better outcome when treated with calcium channel blocker than with diureticTypical
- rs5064NPPA · 11,847,546G;Gcommon in clinvarTypical
- rs5063NPPA · 11,847,591C;Ccommon in complete genomicsTypical
- rs63279311,850,620A;AnormalTypical
- rs12069578MFN2 · 12,004,010G;Gcommon in clinvarTypical
- rs5746059TNFRSF1B · 12,202,735A;ASlightly higher fat massMinor
- rs2245218PRDM2 · 13,813,331A;ANo summary available.Typical
- rs2697962PRDM2 · 13,824,497T;TIncreased risk of developing Parkinson's DiseaseWorth knowing
- rs1052576CASP9 · 15,506,048T;T0.5x reduced risk of multiple myeloma, general reduced risk of cancerMinor
- rs2020902CASP9 · 15,507,865A;Acommon in complete genomicsTypical
- rs5253CLCNKB · 16,053,701C;Ccommon in complete genomicsTypical
- rs754347216,113,897C;CnormalTypical
- rs11260867EPHA2 · 16,115,233C;CnormalTypical
- rs3754334EPHA2 · 16,125,272G;Gcommon in clinvarTypical
- rs2291806EPHA2 · 16,131,723C;Ccommon in complete genomicsTypical
- rs6678616EPHA2 · 16,148,628C;Ccommon in clinvarTypical
- rs1058372EPHA2 · 16,148,904C;Ccommon in complete genomicsTypical
- rs1058371EPHA2 · 16,148,915T;Tcommon in complete genomicsTypical
- rs3738815ATP13A2 · 16,988,207C;Ccommon in clinvarTypical
- rs74315366SDHB · 17,033,078A;GHereditary PGL/PCC SyndromeVery important
- rs2501796PADI4 · 17,307,027A;Acommon in complete genomicsTypical
- rs2240340PADI4 · 17,336,144T;Tslightly increased (1.5x) risk for RAMinor
- rs12733102PADI4 · 17,336,210G;Gcommon in complete genomicsTypical
- rs10437048PADI4 · 17,356,224A;Acommon in complete genomicsTypical
- rs7538876PADI6 · 17,395,867A;A1.28x increased Basal Cell Carcinoma risk.Worth knowing
- rs1686132617,967,993G;Gcommon in complete genomicsTypical
- rs2236835PAX7 · 18,663,757G;GNo summary available.Typical
- rs16862426LOC105376815 · 18,995,001C;Ccommon genotypeTypical
- rs1805054HTR6 · 19,666,020C;Ccommon in complete genomicsTypical
- rs1317209RNF186 · 19,813,543G;GNo summary available.Typical
- rs532545CDA · 20,588,679C;Ccommon/normalTypical
- rs2298298PINK1 · 20,637,835A;Acommon in clinvarTypical
- rs3131713PINK1 · 20,645,555G;Gcommon in clinvarTypical
- rs45478900PINK1 · 20,648,612A;G3 fold increase in risk for Parkinson's diseaseImportant
- rs45539432PINK1 · 20,649,109T;TParkinson's disease, type 6, early-onset; likelyVery important
- rs1043424PINK1 · 20,650,507A;Acommon in clinvarTypical
- rs4704DDOST · 20,656,138G;Gcommon in clinvarTypical
- rs3026906ECE1 · 21,220,008G;Gcommon in complete genomicsTypical
- rs4654748NBPF3 · 21,459,575C;C2.90 ng/mL lower Vitamin B6 blood concentrationWorth knowing
- rs121918001ALPL · 21,561,126A;AhypophosphatasiaVery important
- rs1780316ALPL · 21,563,142T;Tcommon in clinvarTypical
- rs121918007ALPL · 21,564,139A;AhypophosphatasiaVery important
- rs3200254ALPL · 21,568,242T;Tcommon in clinvarTypical
- rs387906525ALPL · 21,577,632-;-hypophosphatasiaVery important
- rs2242420ALPL · 21,578,036C;Ccommon in clinvarTypical
- rs3736360HSPG2 · 21,823,627C;TLikely to be benign according to ClinVarTypical
- rs2229493HSPG2 · 21,833,550C;TLikely to be benign according to ClinVarTypical
- rs2229491HSPG2 · 21,842,308T;Tcommon in clinvarTypical
- rs897471HSPG2 · 21,864,961G;Gcommon in clinvarTypical
- rs989994HSPG2 · 21,880,156C;Ccommon in complete genomicsTypical
- rs1874792HSPG2 · 21,880,742T;Tcommon in clinvarTypical
- rs7524102ZBTB40 · 22,371,954A;Acommon in complete genomicsTypical
- rs642674822,381,072C;Ccommon in complete genomicsTypical
- rs642674922,384,980G;Gcommon in complete genomicsTypical
- rs631090C1QB · 22,659,910T;TNo summary available.Typical
- rs28940884GALE · 23,796,722T;Tcommon in complete genomicsTypical
- rs13551FUCA1 · 23,854,472T;Tcommon in clinvarTypical
- rs10903034LOC107985738 · 24,154,415C;Tcommon in complete genomicsTypical
- rs2236851RUNX3 · 24,917,063C;Ccommon in complete genomicsTypical
- rs760805LOC107984932 · 24,925,432A;A2x increased risk for bladder cancerTypical
- rs121912762RHD · 25,284,753C;CRh factor D(VII); see explanationWorth knowing
- rs121912763RHD · 25,303,329T;Tcommon in clinvarTypical
- rs590787RHD · 25,303,452G;GRh- (Rhesus negative)Minor
- rs609320RHCE · 25,390,874C;Ccommon in clinvarTypical
- rs6687605LDLRAP1 · 25,563,141C;TNo summary available.Typical
- rs11809207CATSPER4 · 26,194,649A;A0.92cm taller on averageTypical
- rs147394623DHDDS · 26,438,228G;GRetinitis pigmentosa, type 59Very important
- rs6659176NUDC · 26,913,429C;Ccommon on affy axiom dataTypical
- rs3813800FCN3 · 27,370,983G;Gcommon in complete genomicsTypical
- rs532781899FCN3 · 27,373,180-;-possible immunodeficiencyVery important
- rs28357092FCN3 · 27,373,182-;-possible immunodeficiencyVery important
- rs1467465C1orf38 · 27,884,892G;Gslightly reduced breast cancer odds?Typical
- rs4654388EPB41 · 29,071,278A;Acommon in complete genomicsTypical
- rs2282440SDC3 · 30,874,473G;Gcommon in complete genomicsTypical
- rs2491132SDC3 · 30,876,800C;Ccommon in clinvarTypical
- rs16835244AZIN2 · 33,096,815G;Gcommon in complete genomicsTypical
- rs67360435,222,214T;Tcommon in complete genomicsTypical
- rs12094543ZMYM4 · 35,351,102A;A>1.3x risk of type I diabetesTypical
- rs7523017KIAA0319L · 35,549,410G;Gcommon in complete genomicsTypical
- rs636832EIF2C1 · 35,897,874G;Gcommon in complete genomicsTypical
- rs96067COL8A2 · 36,106,319A;Acommon in complete genomicsTypical
- rs6702784OSCP1 · 36,439,119A;Acommon in complete genomicsTypical
- rs3918001CSF3R · 36,466,902G;GNo summary available.Typical
- rs3917991CSF3R · 36,469,204C;Ccommon in clinvarTypical
- rs3918018CSF3R · 36,472,277G;GNo summary available.Typical
- rs9253MEAF6 · 37,493,212C;Ccommon on affy axiom dataTypical
- rs12117544LOC100129497 · 37,781,481T;Tcommon in complete genomicsTypical
- rs2228564COL9A2 · 40,307,477T;Tcommon in clinvarTypical
- rs12077871COL9A2 · 40,307,478G;Gcommon in clinvarTypical
- rs5800EDN2 · 41,479,019T;TAF risk in HCM patients (only)Typical
- rs11210278EDN2 · 41,484,301C;Ccommon in complete genomicsTypical
- rs349423HIVEP3 · 41,831,453C;Ccommon genotypeTypical
- rs267607059SLC2A1 · 42,927,118A;AGlut1 Deficiency (predicted)Very important
- rs2229682SLC2A1 · 42,929,964C;Ccommon in clinvarTypical
- rs841858SLC2A1 · 42,933,496G;Gcommon in complete genomicsTypical
- rs841848SLC2A1 · 42,936,874G;Gcommon in complete genomicsTypical
- rs1385129SLC2A1 · 42,943,295G;Gcommon in clinvarTypical
- rs1683035943,130,713G;Gcommon in complete genomicsTypical
- rs621559LOC105378685 · 43,179,740G;Gcommon in complete genomicsTypical
- rs17292650MPL · 43,338,136G;Gcommon in complete genomicsTypical
- rs12731981MPL · 43,338,669G;Gcommon in complete genomicsTypical
- rs2286245SLC6A9 · 43,997,532C;Ccommon in complete genomicsTypical
- rs36053993MUTYH · 45,331,556T;Tlikely to be at somewhat increased risk for colorectal cancersVery important
- rs3219489MUTYH · 45,331,833C;Ccommon in clinvarTypical
- rs200165598MUTYH · 45,332,479C;TPossible polyp associated variant, but of uncertain significanceVery important
- rs34612342MUTYH · 45,332,803C;Cincreased risk for several cancersVery important
- rs3219487MUTYH · 45,332,883C;Ccommon genotypeTypical
- rs6659553POMGNT1 · 46,189,486C;Ccommon in complete genomicsTypical
- rs324420FAAH · 46,405,089A;Asignificantly increased risk for substance use disorders; possibly higher pain toleranceWorth knowing
- rs873978FAAH · 46,408,231C;Ccommon in complete genomicsTypical
- rs4646487CYP4B1 · 46,813,503C;Ccommon in complete genomicsTypical
- rs12059860CYP4B1 · 46,819,251T;TNo summary available.Typical
- rs9332998CYP4A11 · 46,938,514T;Tcommon in complete genomicsTypical
- rs11211503STIL · 47,277,517C;Ccommon in complete genomicsTypical
- rs17103186LINC01389 · 47,388,842C;Ccommon genotypeTypical
- rs52743047,453,149G;Gcommon in complete genomicsTypical
- rs3176447CDKN2C · 50,968,015T;Tcommon in complete genomicsTypical
- rs17391905C1orf185 · 51,080,468T;Tcommon in complete genomicsTypical
- rs1871748CPT2 · 53,213,381C;Ccommon in clinvarTypical
- rs5174LRP8 · 53,247,055T;T1.3x increased risk for heart diseaseWorth knowing
- rs11206226YIPF1 · 53,854,664A;ANo summary available.Typical
- rs2235544DIO1 · 53,909,897A;ARisk of significantly decreased T4-T3 thyroid conversion, may worsen bone loss, brain effectsImportant
- rs11206244DIO1 · 53,910,028T;TRisk of reduced thyroid hormone metabolismMinor
- rs12095080DIO1 · 53,911,057A;Gmay have normal to good thyroid hormone metabolismMinor
- rs12752888LOC105378734 · 54,527,266C;CFaster progression of mild cognitive impairment to Alzheimer’s disease.Minor
- rs2289015ACOT11 · 54,609,389C;Ccommon in complete genomicsTypical
- rs718265DHCR24 · 54,854,229A;Acommon in clinvarTypical
- rs1120651055,030,366T;TNo summary available.Typical
- rs11591147PCSK9 · 55,039,974T;T2-3 fold lower risk of heart diseaseVery important
- rs67608943PCSK9 · 55,046,549C;G40% reduction in LDL-cholesterolImportant
- rs2495478PCSK9 · 55,047,322G;Gcommon in complete genomicsTypical
- rs7517090PCSK9 · 55,049,283G;Gcommon in complete genomicsTypical
- rs562556PCSK9 · 55,058,564A;Acommon in complete genomicsTypical
- rs505151PCSK9 · 55,063,514A;Acommon in complete genomicsTypical
- rs28362286PCSK9 · 55,063,542A;ALowered LDL-C and lower risk for coronary eventsImportant
- rs17111684USP24 · 55,159,875C;Ccommon genotypeTypical
- rs287235USP24 · 55,212,826C;GNo summary available.Typical
- rs1223943655,277,164G;Gcommon in complete genomicsTypical
- rs199801355,492,357C;Ccommon genotypeTypical
- rs1120680156,385,014C;Ccommon in complete genomicsTypical
- rs17114036PLPP3 · 56,497,149A;Acommon/normalTypical
- rs17114046PLPP3 · 56,500,678A;ANo summary available.Typical
- rs2746347PRKAA2 · 56,661,246C;Ccommon in complete genomicsTypical
- rs652785C8A · 56,875,054C;Ccommon in clinvarTypical
- rs1013579C8B · 56,956,811T;Tcommon in complete genomicsTypical
- rs17541203DAB1 · 57,160,259T;Tcommon genotypeTypical
- rs10159302DAB1 · 57,339,878A;Acommon in complete genomicsTypical
- rs52740958,292,243C;Ccommon in complete genomicsTypical
- rs63806558,570,953C;Ccommon genotypeTypical
- rs11688JUN · 58,782,321C;Ccommon in complete genomicsTypical
- rs4601609LINC01135 · 58,859,954T;Tcommon in complete genomicsTypical
- rs670012559,237,125C;C(No longer associated with ALS risk)Minor
- rs669099359,238,310A;A(no longer associated with ALS risk change)Typical
- rs658785259,239,775C;CNo summary available.Typical
- rs33366259,278,242A;AcommonTypical
- rs17119280FGGY · 59,333,489G;Gcommon in complete genomicsTypical
- rs11572223CYP2J2 · 59,920,071G;GNo summary available.Typical
- rs1514178LOC101926964 · 60,739,797T;Tcommon in complete genomicsTypical
- rs334699NFIA · 61,154,824G;Gcommon genotypeTypical
- rs17124318LOC105378769 · 63,015,059C;Ccommon on affy axiom dataTypical
- rs11208257PGM1 · 63,648,630T;Tcommon in clinvarTypical
- rs4916008JAK1 · 64,852,824C;Ccommon in complete genomicsTypical
- rs10889553LEPR · 65,440,582G;Gcommon in complete genomicsTypical
- rs1137100LEPR · 65,570,758A;Acommon in clinvarTypical
- rs1137101LEPR · 65,592,830G;GSlight increase in obesity and T2DM riskMinor
- rs1805134LEPR · 65,601,426T;Tcommon in clinvarTypical
- rs1805094LEPR · 65,610,269G;Gcommon in clinvarTypical
- rs8179183LEPR · 65,610,269C;Gless likely to gain weight if taking risperidoneMinor
- rs1805096LEPR · 65,636,574G;Gcommon in clinvarTypical
- rs189253465,640,261C;CSlightly higher C-Reactive Protein levels. Possibly slightly lower cancer risk.Minor
- rs10493389PDE4B · 65,845,182T;Tcommon on affy axiom dataTypical
- rs2455012PDE4B · 66,055,315G;Gcommon genotypeTypical
- rs4655595PDE4B · 66,093,076A;AnormalTypical
- rs1321172PDE4B · 66,265,030G;GcommonTypical
- rs11465770IL23R · 67,168,280C;Tpossibly lower risk of Crohn's Disease (OR=0.30)Minor
- rs1004819IL23R · 67,204,530G;G1.5x risk of Crohn's disease, 1.2 for developing ankylosing spondylitisMinor
- rs11805303IL23R · 67,209,833C;CnormalTypical
- rs7517847IL23R · 67,215,986G;G0.65x reduced risk for Crohn's diseaseTypical
- rs7530511IL23R · 67,219,704T;T9x increased risk for Graves diseaseWorth knowing
- rs10489629IL23R · 67,222,666T;T0.83x lower risk for spondylitisTypical
- rs2201841IL23R · 67,228,519T;TNo summary available.Worth knowing
- rs11465804IL23R · 67,236,843G;G0.68x lower risk for spondylitisMinor
- rs11209026IL23R · 67,240,275A;A0.26x lower risk for certain autoimmune diseases.Important
- rs1343151IL23R · 67,253,446G;Gnormal riskTypical
- rs10889677IL23R · 67,259,437A;C1.5x increased risk for certain autoimmune diseases; 2x increased risk for Graves diseaseWorth knowing
- rs1256723267,262,335A;AIncreased risk for Crohn's DiseaseWorth knowing
- rs11209032IL23R · 67,274,409A;A1.3x higher risk for spondylitisTypical
- rs1495965IL23R · 67,287,825T;T1.2x higher risk for spondylitisTypical
- rs17129789IL12RB2 · 67,324,915A;Acommon in complete genomicsTypical
- rs3790565IL12RB2 · 67,345,673C;CIncreased risk of developing primary biliary cirrhosisWorth knowing
- rs3790568IL12RB2 · 67,370,377G;Gcommon in complete genomicsTypical
- rs312592368,392,796G;Gslightly (1.8x) increased risk for Taxane-induced peripheral neuropathyWorth knowing
- rs12037173LRRC7 · 69,890,298A;Acommon in complete genomicsTypical
- rs1021737CTH · 70,439,117T;Tsignificantly higher plasma total homocysteine concentrationImportant
- rs17407754CTH · 70,439,117G;GNo summary available.Typical
- rs17131450LOC102724572 · 70,830,319G;Gcommon in complete genomicsTypical
- rs2050066PTGER3 · 70,989,452T;TNo summary available.Typical
- rs12141391NEGR1 · 71,808,790C;Ccommon in complete genomicsTypical
- rs463008373,709,607A;AMusical AptitudeMinor
- rs1857353SLC44A5 · 75,448,141C;Ccommon on affy axiom dataTypical
- rs77931234ACADM · 75,761,161G;GMedium-Chain Acyl-CoA Dehydrogenase DeficiencyVery important
- rs527974ST6GALNAC3 · 76,226,810G;GNo summary available.Typical
- rs1739169478,157,942C;CNo summary available.Typical
- rs3753380PTGFR · 78,490,747T;Tcommon in clinvarTypical
- rs465060878,772,330C;Tcommon in complete genomicsTypical
- rs1273029278,789,077C;Gcommon in complete genomicsTypical
- rs300014079,534,963G;Gcommon genotypeTypical
- rs753945279,937,056G;Gcommon in complete genomicsTypical
- rs1116292280,106,373A;A2x riskTypical
- rs1211839080,445,429G;GNo summary available.Typical
- rs11809789ADGRL2 · 81,609,167G;Gcommon in complete genomicsTypical
- rs17129289LINC01725 · 83,767,065T;Tcommon genotypeTypical
- rs7539409LINC01725 · 83,789,052A;Acommon on affy axiom dataTypical
- rs12144715DNASE2B · 84,399,547A;Acommon in complete genomicsTypical
- rs604708DNASE2B · 84,403,278C;Ccommon genotypeTypical
- rs1983853LPAR3 · 84,845,509C;Ccommon on affy axiom dataTypical
- rs11161721COL24A1 · 86,022,231C;Ccommon/normalTypical
- rs217996588,336,329G;GNo summary available.Typical
- rs305217PKN2 · 88,754,789G;GNo summary available.Typical
- rs7538427GTF2B · 88,873,739T;TNo summary available.Typical
- rs284875TGFBR3 · 91,705,151G;GNo summary available.Typical
- rs17131547TGFBR3 · 91,745,463G;Gcommon in complete genomicsTypical
- rs11808092EVI5 · 92,607,671C;Ccommon in clinvarTypical
- rs10735781EVI5 · 92,655,550C;C>1.11x riskTypical
- rs6680578EVI5 · 92,711,321A;A>1.11x riskTypical
- rs6604026RPL5 · 92,838,046C;C>1.15x risk of multiple sclerosisWorth knowing
- rs7536563FAM69A · 92,883,489A;A>1.12x risk of multiple sclerosisWorth knowing
- rs11164838FAM69A · 92,929,821C;C>1.11x riskTypical
- rs17110736ABCA4 · 93,997,213G;Gcommon in complete genomicsTypical
- rs1800555ABCA4 · 93,998,061C;Ccommon in complete genomicsTypical
- rs61748520ABCA4 · 94,001,046C;TCarrier of a mutation for Stargardt diseaseImportant
- rs28938473ABCA4 · 94,007,731A;AFundus flavimaculatus, a type of Stargardt disease, likelyVery important
- rs1762111ABCA4 · 94,021,934A;GCarrier of a mutation for Stargardt diseaseImportant
- rs1047376ABCA4 · 94,041,354A;GCarrier of a mutation for Stargardt diseaseImportant
- rs3112831ABCA4 · 94,078,678T;Tcommon in clinvarTypical
- rs2774920LOC105378858 · 94,145,744A;Acommon genotypeTypical
- rs1361600F3 · 94,542,362C;C~2x increased risk for adult-onset asthma in Japanese populationsWorth knowing
- rs1078305096,571,527T;Tcommon in complete genomicsTypical
- rs1801268DPYD · 97,079,071C;Ccommon genotypeTypical
- rs67376798DPYD · 97,082,391A;A5-fluorouracil toxicityImportant
- rs3918290DPYD · 97,450,058T;T5-fluorouracil toxicity, dihydropyrimidine dehydrogenase deficiencyImportant
- rs55886062DPYD · 97,515,787C;C5-fluorouracil toxicityImportant
- rs1801159DPYD · 97,515,839T;Tcommon in clinvarTypical
- rs2297595DPYD · 97,699,535T;Tcommon on affy axiom dataTypical
- rs1801265DPYD · 97,883,329G;Gcommon in clinvarTypical
- rs1625579MIR137HG · 98,037,378G;GNo summary available.Typical
- rs1180231698,106,701A;ANo summary available.Typical
- rs17121403AGL · 99,870,421A;Acommon on affy axiom dataTypical
- rs12021720DBT · 100,206,504T;Trare genotype but harmlessTypical
- rs17856511DBT · 100,206,504A;ANo summary available.Typical
- rs1041163VCAM1 · 100,718,269T;Tcommon in complete genomicsTypical
- rs3783605VCAM1 · 100,719,321A;Acommon in complete genomicsTypical
- rs3783613VCAM1 · 100,731,231G;Gcommon in complete genomicsTypical
- rs17410015LOC102606465 · 101,086,370T;Tcommon on affy axiom dataTypical
- rs10874639102,668,353A;Acommon on affy axiom dataTypical
- rs1676486COL11A1 · 102,888,582A;A>1.4x risk for LDHWorth knowing
- rs3753841COL11A1 · 102,914,362G;Gcommon in clinvarTypical
- rs12035891106,112,423A;Acommon in complete genomicsTypical
- rs10494067NTNG1 · 107,288,236A;Acommon in complete genomicsTypical
- rs4915077VAV3 · 107,823,394C;CHigher risk of hypothyroidismWorth knowing
- rs4970834CELSR2 · 109,272,258C;Ccommon in complete genomicsTypical
- rs646776CELSR2 · 109,275,908T;T1.2x risk of coronary artery diseaseWorth knowing
- rs602633109,278,889T;TNo summary available.Typical
- rs599839PSRC1 · 109,279,544A;A1.4x increased risk for heart diseaseMinor
- rs17646665SORT1 · 109,369,429G;GReduced risk for Alzheimer's (~0.33x?)Very important
- rs12049330ATXN7L2 · 109,488,566T;Tcommon on affy axiom dataTypical
- rs7550711GPR61 · 109,540,264C;Ccommon genotypeTypical
- rs6692804GNAI3 · 109,566,120G;GNo summary available.Typical
- rs17024258GNAT2 · 109,604,699C;Ccommon genotypeTypical
- rs650985GSTM4 · 109,658,958T;TNo summary available.Typical
- rs4147565GSTM1 · 109,689,155G;GNo summary available.Typical
- rs1056806GSTM1 · 109,690,525C;CCommon/normalTypical
- rs366631GSTM5 · 109,709,850G;GGSTM1*1 statusMinor
- rs1332018GSTM3 · 109,740,350G;Tcommon in complete genomicsTypical
- rs11102001EPS8L3 · 109,757,069G;Gcommon in complete genomicsTypical
- rs7537752109,931,820C;Ccommon in complete genomicsTypical
- rs17025426LINC01397 · 110,102,705C;Ccommon genotypeTypical
- rs35511654TMIGD3 · 111,500,165T;Tcommon on affy axiom dataTypical
- rs2788612KCND3 · 111,873,741C;Ccommon genotypeTypical
- rs1049434SLC16A1 · 112,913,924A;Acommon in clinvarTypical
- rs6679677RSBN1 · 113,761,186A;A5.2x risk for T1D; 3.3x for RAImportant
- rs3789604RSBN1 · 113,812,320G;G1.7x increased RA riskTypical
- rs1310182PTPN22 · 113,830,881G;Gcommon/normalTypical
- rs2476601PTPN22 · 113,834,946A;A2x risk of rheumatoid arthritis and other autoimmune diseasesImportant
- rs33996649PTPN22 · 113,852,067T;TSlightly lower (~0.65x) risk for rheumatoid arthritisMinor
- rs2488457PTPN22 · 113,872,746C;CSlightly increased (~1.7x) risk for certain autoimmune diseases in some populationsMinor
- rs1217401AP4B1 · 113,896,329A;Acommon in clinvarTypical
- rs12079716AP4B1 · 113,901,972T;Tcommon genotypeTypical
- rs2774292114,172,962G;Gcommon in complete genomicsTypical
- rs1125002TRIM33 · 114,395,553C;Ccommon genotypeTypical
- rs17602729AMPD1 · 114,693,436A;TReally unexpected!Important
- rs11554290NRAS · 114,713,908T;Tcommon in complete genomicsTypical
- rs11466112LOC105378917 · 115,286,135G;Gcommon in clinvarTypical
- rs6330NGF · 115,286,692G;Gmore anxious females, less anxious malesTypical
- rs17500488VANGL1 · 115,669,142T;Tcommon in complete genomicsTypical
- rs7521023CASQ2 · 115,700,759G;Gcommon in clinvarTypical
- rs4074536CASQ2 · 115,768,346T;Tcommon in clinvarTypical
- rs11540945ATP1A1 · 116,387,415T;Tcommon in clinvarTypical
- rs12044852CD58 · 116,545,157A;AcommonTypical
- rs2806864PTGFRN · 116,927,159C;Ccommon in complete genomicsTypical
- rs10754339VTCN1 · 117,147,650G;G1.45x increased risk of breast cancerMinor
- rs10801935VTCN1 · 117,179,265C;C0.3x decreased risk of breast cancerMinor
- rs1113673VTCN1 · 117,184,163C;Ccommon in complete genomicsTypical
- rs3738414VTCN1 · 117,210,906A;A0.4x decreased risk of breast cancerMinor
- rs7527203118,274,106C;Ccommon genotypeTypical
- rs2145418118,422,631C;C9.2x increased thyroid cancer riskWorth knowing
- rs2854964HSD3B2 · 119,418,756A;ACommon/normalTypical
- rs1819698HSD3B2 · 119,422,896C;Ccommon/normalTypical
- rs2641348ADAM30 · 119,895,261A;Acommon in complete genomicsTypical
- rs10923931NOTCH2 · 119,975,336G;Gcommon in complete genomicsTypical
- rs2793831NOTCH2 · 119,981,279T;Tcommon in complete genomicsTypical
- rs1797052PDZK1 · 145,707,383C;CNo summary available.Typical
- rs201779890RBM8A · 145,927,328C;Cthrombocytopenia-absent radius syndromeVery important
- rs139428292LOC105371260 · 145,927,447A;AReported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikelyVery important
- rs3820129BCL9 · 147,620,166A;GNo summary available.Typical
- rs267734150,979,001T;Tcommon in complete genomicsTypical
- rs2296840PSMB4 · 151,399,571C;Ccommon in complete genomicsTypical
- rs3124314152,065,039C;Ccurlier hairWorth knowing
- rs17646946TCHHL1 · 152,090,291A;Astraighter curlWorth knowing
- rs11803731TCHH · 152,110,849A;Astraighter hairWorth knowing
- rs121909626FLG · 152,307,225C;GIchthyosis vulgaris (dry, scaly skin)Very important
- rs3120649FLG · 152,311,335G;Gcommon in clinvarTypical
- rs41370446FLG · 152,311,629CAGT;CAGTcommon in clinvarTypical
- rs558269137FLG · 152,312,601-;-Ichthyosis vulgaris (more severe form likely)Important
- rs61816761FLG · 152,313,385A;AIchthyosis vulgaris (more severe form likely)Important
- rs142991475FLG · 152,313,823G;Gcommon in clinvarTypical
- rs114733570FLG · 152,315,363C;Ccommon in clinvarTypical
- rs6700998152,461,533G;G0.83x reduced risk of Atopic Dermatitis.Worth knowing
- rs908922152,482,115A;Astraighter hairWorth knowing
- rs499697152,520,678A;Astraighter hairWorth knowing
- rs16834871LOC105371446 · 153,023,685G;Gcommon in complete genomicsTypical
- rs6684439IL6R · 154,423,363C;CnormalTypical
- rs4845618IL6R · 154,427,539G;T1.7x increased melanoma riskMinor
- rs4845622IL6R · 154,438,943A;AnormalTypical
- rs7529229IL6R · 154,448,302C;C2.5x higher risk of multiple myeloma than AAMinor
- rs4129267IL6R · 154,453,788T;TAssociated with 73% higher IL-R and CRP levelsMinor
- rs2228145IL6R · 154,454,494A;Acommon in clinvarTypical
- rs8192284IL6R · 154,454,494A;Areduced risk of multiple myelomaTypical
- rs2229238IL6R · 154,465,420C;Ccommon in complete genomicsTypical
- rs4845378CHRNB2 · 154,572,175G;Gcommon in clinvarTypical
- rs1127313ADAR · 154,583,949G;Gcommon in clinvarTypical
- rs2229857ADAR · 154,601,491T;Tcommon in clinvarTypical
- rs145588689ADAR · 154,602,065C;CAicardi-Goutieres syndrome? (pathogenicity unclear)Very important
- rs1466731ADAR · 154,602,344C;Ccommon in complete genomicsTypical
- rs1131820KCNN3 · 154,772,376A;Acommon in clinvarTypical
- rs13376333KCNN3 · 154,841,877T;T~2x higher risk of atrial fibrillationWorth knowing
- rs1630500154,882,579G;Gcommon genotypeTypical
- rs12726330SLC50A1 · 155,135,691G;Gcommon in complete genomicsTypical
- rs35095275GBAP1 · 155,205,043A;Arisk allele, but prone to genotyping confusionVery important
- i4000415GBA · 155,205,634C;CGaucher's diseaseVery important
- rs368060GBA · 155,235,217C;Ccommon in clinvarTypical
- rs421016GBAP1 · 155,235,252G;GGaucher disease; at least 5x higher risk of Parkinson'sVery important
- rs1064651GBA · 155,235,727G;Gpossibly Gaucher's disease, but more likely a mis-oriented interpretationVery important
- rs80356769GBA · 155,235,772A;AGaucher diseaseVery important
- rs76763715GBA · 155,235,843C;CGaucher's disease, type 1Very important
- rs2230288GBA · 155,236,376T;THomozygous for E326K variant of GBA geneMinor
- rs1064644GBA · 155,238,192A;GCarrier of a Gaucher disease mutationImportant
- rs364897GBA · 155,238,215C;CHomozygous for N188S variant of GBA geneMinor
- rs104886460GBA · 155,240,629A;AGaucher diseaseVery important
- rs2297480FDPS · 155,309,691T;TnormalTypical
- rs34372695RAB25 · 156,060,246C;Ccommon in complete genomicsTypical
- rs58922911LMNA · 156,115,094G;TLikely miscall by 23andMe (and other genotyping companies); otherwise, dominant cardiomyopathy mutationTypical
- rs28933090LMNA · 156,115,172G;TDilated cardiomyopathyVery important
- rs587777892LMNA · 156,136,008G;TCharcot-Marie-Tooth disease possibilityVery important
- rs553016LMNA · 156,137,072C;Ccommon in clinvarTypical
- rs57520892LMNA · 156,137,204C;GEmery-Dreifuss muscular dystrophy (predicted)Very important
- rs4641LMNA · 156,137,743C;Ccommon in clinvarTypical
- rs58596362LMNA · 156,138,613C;TProgeria - but more likely a technical/lab errorVery important
- rs926103SH2D2A · 156,815,190T;TPossible increased risk of multiple sclerosis if SH2D2A promoter GA repeat=16Minor
- rs6334NTRK1 · 156,876,441G;Gcommon in clinvarTypical
- rs6336NTRK1 · 156,879,126C;Ccommon in clinvarTypical
- rs6339NTRK1 · 156,879,154G;Gcommon in clinvarTypical
- rs12041331PEAR1 · 156,899,922A;APlatelet proteinsMinor
- rs7528684FCRL3 · 157,701,026G;G1.2x risk of Rheumatoid Arthritis; various risks of autoimmune diseasesMinor
- rs952094SPTA1 · 158,614,301A;Acommon in clinvarTypical
- rs857725SPTA1 · 158,638,145T;Tcommon in clinvarTypical
- rs863931SPTA1 · 158,642,446A;Acommon in clinvarTypical
- rs7418956SPTA1 · 158,662,793C;CNo summary available.Typical
- rs1101999PYHIN1 · 158,962,765T;Tcommon in complete genomicsTypical
- rs3027009CADM3-AS1 · 159,204,097A;Acommon genotypeTypical
- rs2814778DARC · 159,204,893T;TDuffy-positiveMinor
- rs12075ACKR1 · 159,205,564A;ADuffy Fy(a-b+) phenotype likely (unless Duffy null mutation is present)Minor
- rs34599082ACKR1 · 159,205,704T;TDuffy FY(bwk) blood group, and possible malarial resistanceWorth knowing
- rs13962ACKR1 · 159,205,737G;GNo summary available.Typical
- rs2427837FCER1A · 159,288,755A;Alowest IgE levelsTypical
- rs2251746FCER1A · 159,302,270C;Clowest IgE levelsTypical
- rs4128725OR10J1 · 159,436,169T;Tcommon on affy axiom dataTypical
- rs4133289LOC105371462 · 159,484,147C;Ccommon on affy axiom dataTypical
- rs10494326159,679,910C;Ccommon genotypeTypical
- rs726640159,685,728G;Gcommon in complete genomicsTypical
- rs876537CRPP1 · 159,705,143C;Tcommon in complete genomicsTypical
- rs2794520159,709,026C;Tcommon in complete genomicsTypical
- rs3093077159,709,846A;ANo summary available.Typical
- rs1205CRP · 159,712,443C;Tcommon in complete genomicsTypical
- rs3093066CRP · 159,713,309G;Gcommon in complete genomicsTypical
- rs1800947CRP · 159,713,648G;Glower CRP levelsTypical
- rs3093062CRP · 159,714,894C;Ccommon in complete genomicsTypical
- rs3093061CRP · 159,715,192T;Tnormal riskTypical
- rs3093059CRP · 159,715,346G;Gassociated with elevated C-reactive protein levels and hypertensionWorth knowing
- rs3093058CRP · 159,715,525T;Tcommon in complete genomicsTypical
- rs1341665159,721,769A;Gcommon in complete genomicsTypical
- rs7553007159,728,759A;Gcommon in complete genomicsTypical
- rs11265260159,730,249A;Acommon on affy axiom dataTypical
- rs11265263159,740,727C;Ccommon on affy axiom dataTypical
- rs2501324CFAP45 · 159,886,639C;Ccommon genotypeTypical
- rs2486253KCNJ10 · 160,039,629A;Acommon in clinvarTypical
- rs16832015160,452,126C;Ccommon in complete genomicsTypical
- rs1265883SLAMF6 · 160,495,121T;TNo summary available.Typical
- rs1268524SLAMF6 · 160,500,468C;TNo summary available.Typical
- rs6427528CD84 · 160,546,518A;Afor rheumatoid arthritis patients, better response to etanercept treatmentMinor
- rs576523LOC105371470 · 160,776,286A;Acommon genotypeTypical
- rs509749LY9 · 160,823,770A;Acommon; slight increase in SLE riskTypical
- rs3766379CD244 · 160,837,925C;CnormalTypical
- rs6682654CD244 · 160,839,213A;ANo summary available.Typical
- rs12059277LOC101928372 · 160,949,838G;Gcommon in complete genomicsTypical
- rs12735723PPOX · 161,169,143G;GVariegate porphyriaImportant
- rs6413453APOA2 · 161,222,526G;Gcommon in clinvarTypical
- rs5082APOA2 · 161,223,893G;Gsaturated fat contributes to obesity, but 0.57 % lower risk for coronary artery diseaseWorth knowing
- rs2307424NR1I3 · 161,232,815G;Gcommon in clinvarTypical
- rs3935401SDHC · 161,363,768A;Acommon in clinvarTypical
- rs1801274FCGR2A · 161,509,955A;Gcomplex; generally greater risk for cancer progressionMinor
- rs396991FCGR3A · 161,544,752C;CnormalTypical
- rs10127939FCGR3A · 161,548,543T;Timmunodeficiency, but not for 23andMe usersMinor
- rs403016FCGR3A · 161,548,632C;CnormalWorth knowing
- rs448740FCGR3B · 161,629,903C;Tone of the differences in NA1 and NA2 neutrophil alloantigensTypical
- rs10917661FCGR2B · 161,671,427C;Ccommon in complete genomicsTypical
- rs12084280162,054,019G;Gcommon in complete genomicsTypical
- rs10918594NOS1AP · 162,060,898C;CShorter QT intervalTypical
- rs12143842162,064,100C;CnormalTypical
- rs16847548162,065,484C;C2.6x increased risk for sudden cardiac death in CaucasiansWorth knowing
- rs12567209162,066,689G;Gcommon in complete genomicsTypical
- rs10494366NOS1AP · 162,115,895T;TShorter QT intervalWorth knowing
- rs16856785NOS1AP · 162,130,497G;Gcommon in complete genomicsTypical
- rs16857031NOS1AP · 162,143,120C;Ccommon in complete genomicsTypical
- rs10494373DDR2 · 162,649,572A;Acommon in complete genomicsTypical
- rs10800098RXRG · 165,439,858G;Gcommon on affy axiom dataTypical
- rs4656461165,717,968G;G2.2x increased risk for open angle glaucomaWorth knowing
- rs4145462MPZL1 · 167,749,262G;GNo summary available.Typical
- rs3752608ADCY10 · 167,834,585G;Gcommon genotypeTypical
- rs10919071ATP1B1 · 169,130,245A;Acommon on affy axiom dataTypical
- rs16861990NME7 · 169,165,889A;ANo summary available.Typical
- rs6687813169,508,336C;Ccommon on affy axiom dataTypical
- rs6427196F5 · 169,511,985C;Ccommon in clinvarTypical
- rs2420371F5 · 169,522,317A;ANo summary available.Typical
- rs6030F5 · 169,529,737T;Tcommon in clinvarTypical
- rs1800595F5 · 169,541,110T;Tcommon in clinvarTypical
- rs4525F5 · 169,542,496T;Tcommon in clinvarTypical
- rs4524F5 · 169,542,517T;Tcommon in clinvarTypical
- rs6025F5 · 169,549,811T;T11.4x higher risk of thrombosisVery important
- rs6020F5 · 169,549,874C;Ccommon in clinvarTypical
- rs6022F5 · 169,560,588C;Ccommon in clinvarTypical
- rs6019F5 · 169,572,275C;Ccommon in complete genomicsTypical
- rs6028F5 · 169,582,444T;Tcommon in clinvarTypical
- rs2269648F5 · 169,586,812C;CNo summary available.Typical
- rs6136SELP · 169,594,713T;TcommonTypical
- rs6133SELP · 169,596,108C;Ccommon in clinvarTypical
- rs6125SELP · 169,613,079C;Ccommon genotypeTypical
- rs7531806LOC107985745 · 169,681,903A;ASlightly (1.4x) increased risk of acne occurrences in Chinese Han population.Minor
- rs2229569SELL · 169,704,697G;Gcommon in complete genomicsTypical
- rs5355SELE · 169,726,729G;Gcommon in complete genomicsTypical
- rs5368SELE · 169,727,805G;Gcommon in complete genomicsTypical
- rs5361SELE · 169,731,919G;G4x increased risk for recurrent venous thromboembolism.Worth knowing
- rs3903239170,600,176G;Ghigher frequency of atrial fibrillationImportant
- rs2266782FMO3 · 171,107,825G;Gcommon in clinvarTypical
- rs1736557FMO3 · 171,110,939A;Anormal?Minor
- rs17858963FMO3 · 171,110,939G;GNo summary available.Typical
- rs909530FMO3 · 171,114,034C;Ccommon in clinvarTypical
- rs2266780FMO3 · 171,114,102A;Acommon in clinvarTypical
- rs28363581FMO3 · 171,114,258T;Tcommon in clinvarTypical
- rs2020865FMO2 · 171,207,773T;Tcommon in complete genomicsTypical
- rs6661174FMO2 · 171,208,951T;Tcommon in complete genomicsTypical
- rs2421847PRRC2C · 171,588,461A;ANo summary available.Typical
- rs2421853171,630,813G;GNo summary available.Typical
- rs74315329MYOC · 171,636,338A;GPrimary open-angle glaucomaVery important
- rs10914144DNM3 · 171,980,610C;Ccommon in complete genomicsTypical
- rs763110FASLG · 172,658,358C;T~0.80x reduced cancer riskWorth knowing
- rs12037606172,929,262A;A1.52x risk of developing Crohn's diseaseWorth knowing
- rs7514229TNFSF4 · 173,185,165T;TLess susceptible to autoimmune thyroid diseasesMinor
- rs3850641TNFSF4 · 173,206,693A;GIncreased risk of myocardial infarction in womenMinor
- rs4916321LOC100506023 · 173,315,060G;Gcommon genotypeTypical
- rs2227624SERPINC1 · 173,914,872A;Acommon in clinvarTypical
- rs2227589SERPINC1 · 173,917,078C;CNo summary available.Typical
- rs2269655KIAA0040 · 175,166,468C;Ccommon in complete genomicsTypical
- rs17312292175,746,470G;Gcommon genotypeTypical
- rs543874177,920,345A;Acommon in complete genomicsTypical
- rs10913469SEC16B · 177,944,384T;Tcommon in complete genomicsTypical
- rs2816216ABL2 · 179,206,613A;Acommon in complete genomicsTypical
- rs12568913NPHS2 · 179,557,179G;Gcommon in clinvarTypical
- rs7527074XPR1 · 180,676,305C;Ccommon genotypeTypical
- rs12131800CACNA1E · 181,724,499G;Gcommon in clinvarTypical
- rs7554182182,052,148C;Ccommon genotypeTypical
- rs486907RNASEL · 182,585,422T;T2x increased prostate cancer riskWorth knowing
- rs3738579RNASEL · 182,586,901G;G0.6x decreased risk for cervical cancer, but 1.4x increased risk for HNSCC and 1.8x increased risk for breast cancer (reported in 2008)Minor
- rs10911193LAMC1 · 183,021,513T;TNo summary available.Minor
- rs1028771LAMC2 · 183,201,813A;Acommon in complete genomicsTypical
- rs16860537LAMC2 · 183,211,125A;Acommon genotypeTypical
- rs13306575NCF2 · 183,563,302G;Gcommon in clinvarTypical
- rs2274064NCF2 · 183,573,252T;Tcommon in clinvarTypical
- rs10911390APOBEC4 · 183,647,749C;Ccommon genotypeTypical
- rs10797919RGL1 · 183,883,780C;Gcommon in complete genomicsTypical
- rs1930293184,325,033C;CNo summary available.Typical
- rs12402521PDC · 186,453,389G;G12–15 mmHg higher blood pressure when under stressWorth knowing
- rs10911902186,663,185C;Ccommon on affy axiom dataTypical
- rs4648310PTGS2 · 186,671,393T;Tcommon in complete genomicsTypical
- rs689470PTGS2 · 186,671,926G;GNo summary available.Typical
- rs689469PTGS2 · 186,672,065C;CNo summary available.Typical
- rs4648298PTGS2 · 186,672,550T;TNo summary available.Typical
- rs2206593PTGS2 · 186,673,297G;Gcommon in complete genomicsTypical
- rs5275PTGS2 · 186,673,926G;G0.68x decreased risk for bladder cancerTypical
- rs3218625PTGS2 · 186,674,409C;Ccommon in complete genomicsTypical
- rs4648262PTGS2 · 186,679,617C;Ccommon in complete genomicsTypical
- rs4648261PTGS2 · 186,679,872C;Ccommon in complete genomicsTypical
- rs2745557PTGS2 · 186,680,089A;Aautism risk?Typical
- rs5270PTGS2 · 186,680,587G;Gcommon in complete genomicsTypical
- rs20417PTGS2 · 186,681,189G;GNo summary available.Typical
- rs20415PTGS2 · 186,681,556G;GNo summary available.Typical
- rs689466PTGS2 · 186,681,619C;C1.4x higher risk for inflammatory bowel diseasesMinor
- rs689465PTGS2 · 186,681,714T;T1.5x increased risk for mild asthmaTypical
- rs2745559186,682,870C;Ccommon in complete genomicsTypical
- rs4140564186,755,871A;Acommon in complete genomicsTypical
- rs12746200PLA2G4A · 186,880,054G;Gless cardiovascular disease, more colon cancerWorth knowing
- rs10489759LOC105371657 · 189,620,209C;Ccommon in complete genomicsTypical
- rs1933695192,795,690G;GNo summary available.Typical
- rs2179653LOC100130137 · 192,801,932C;CNo summary available.Typical
- rs4606RGS2 · 192,812,042C;Ccomplex; possible association with anxiety related behavioursTypical
- rs9427573UCHL5 · 193,026,083C;Ccommon in complete genomicsTypical
- rs2025934193,765,770G;GNo summary available.Typical
- rs7512769LOC105371673 · 196,073,532T;Tcommon in complete genomicsTypical
- rs529825CFH · 196,665,976G;GNo summary available.Typical
- rs800292CFH · 196,673,103G;G5% higher risk of Age related macular degenerationWorth knowing
- rs572515CFH · 196,677,131A;ANo summary available.Worth knowing
- rs3766404CFH · 196,682,702T;TNo summary available.Typical
- rs1061147CFH · 196,685,194A;A2.76x increased risk for Age Related Macular Degeneration.Worth knowing
- rs1061170CFH · 196,690,107C;C5.9x risk for AMD; higher mortality among nonagenariansImportant
- rs3753396CFH · 196,726,612A;Acommon in clinvarTypical
- rs380390CFH · 196,731,921G;Gincreased risk for ARMDWorth knowing
- rs1329428CFH · 196,733,680C;C2x increased risk for macular degenerationWorth knowing
- rs1065489CFH · 196,740,644G;Gcommon in clinvarTypical
- rs460897CFH · 196,747,189G;GNo summary available.Typical
- rs460184CFH · 196,747,207T;Tcommon in clinvarTypical
- rs6428370LOC100289145 · 196,875,463A;Acommon/normalTypical
- rs10922153CFHR5 · 197,009,485T;Tcommon in clinvarTypical
- rs6003F13B · 197,061,891A;ANo summary available.Typical
- rs3762271ASPM · 197,101,312G;Gcommon in clinvarTypical
- rs10922162ASPM · 197,101,646C;Ccommon in clinvarTypical
- rs964201ASPM · 197,101,771A;ANo summary available.Worth knowing
- rs10494778198,558,976A;Acommon in complete genomicsTypical
- rs12127588198,626,376G;Gcommon on affy axiom dataTypical
- rs7536180198,630,171C;CNo summary available.Typical
- rs17612648PTPRC · 198,696,788C;Ccommon in complete genomicsTypical
- rs16844716LOC100421840 · 199,387,388A;Acommon in complete genomicsTypical
- rs3790844NR5A2 · 200,038,304G;Greduced risk (0.59x) of pancreatic cancerWorth knowing
- rs12084681200,393,892G;Gcommon in complete genomicsTypical
- rs6685085200,394,070T;Tcommon in complete genomicsTypical
- rs28930068CACNA1S · 201,053,538C;TMalignant Hyperthermia susceptibilityVery important
- rs28930069CACNA1S · 201,053,539C;GMalignant Hyperthermia susceptibilityVery important
- rs1800559CACNA1S · 201,060,815T;Tsusceptibility to malignant hyperthermiaVery important
- rs2297902CACNA1S · 201,065,943G;Gcommon in clinvarTypical
- rs4523540TNNT2 · 201,359,639T;Tcommon in clinvarTypical
- rs3729547TNNT2 · 201,365,254G;Gcommon in clinvarTypical
- rs2820312LMOD1 · 201,900,129A;GNo summary available.Typical
- rs12734338PPP1R12B · 202,500,595C;TGender=Male (if data is from a DNA chip)Minor
- rs7539542ADIPOR1 · 202,940,846C;C0.51x decreased breast cancer riskTypical
- rs4950928CHI3L1 · 203,186,754C;GHalf the risk (maybe) of Asthma.Worth knowing
- rs4950930203,192,233G;Gcommon in complete genomicsTypical
- rs2297950CHIT1 · 203,225,058C;Ccommon in clinvarTypical
- rs7534537PLEKHA6 · 204,305,391T;Tcommon genotypeTypical
- rs7552806204,814,890A;Acommon genotypeTypical
- rs12748961205,707,135T;Tcommon on affy axiom dataTypical
- rs823128NUCKS1 · 205,744,250A;Acommon in complete genomicsTypical
- rs823156SLC41A1 · 205,795,512A;Acommon in complete genomicsTypical
- rs3024505IL10 · 206,766,559G;GNo summary available.Typical
- rs3024490IL10 · 206,771,966C;CNo summary available.Typical
- rs1800871IL10 · 206,773,289G;G0.5x decreased risk for endometriosisTypical
- rs1800896IL10 · 206,773,552T;T1.8x increased prostate cancer riskWorth knowing
- rs291102PIGR · 206,933,133G;Gcommon in complete genomicsTypical
- rs3813948C4BPB · 207,096,513T;Tcommon in clinvarTypical
- rs1048971CR2 · 207,472,977G;Gcommon in clinvarTypical
- rs17615CR2 · 207,473,117G;Gcommon in clinvarTypical
- rs4308977CR2 · 207,473,553T;Tcommon in clinvarTypical
- rs17616CR2 · 207,473,578G;Gcommon in clinvarTypical
- rs17045328CR2 · 207,478,831A;Acommon in complete genomicsTypical
- rs6656401CR1 · 207,518,704A;A1.18x increased risk for late-onset Alzheimer’sMinor
- rs3818361CR1 · 207,611,623A;A1.2x increased risk for late-onset Alzheimer'sMinor
- rs4844614CR1L · 207,701,830G;GNo summary available.Typical
- rs7144CD46 · 207,794,374T;Tcommon in clinvarTypical
- rs17259784208,584,241G;Gcommon on affy axiom dataTypical
- rs6703183LOC105372898 · 209,539,544C;C>1.3x risk for ALS for Han ChineseTypical
- rs2566LAMB3 · 209,615,169G;Gcommon in clinvarTypical
- rs786205451LAMB3 · 209,624,001T;TEpidermolysis bullosa (predicted)Very important
- rs846910LOC101930114 · 209,701,909G;Gcommon in complete genomicsTypical
- rs1044516IRF6 · 209,786,269G;Gcommon in clinvarTypical
- rs17015215IRF6 · 209,790,735G;GNo summary available.Typical
- rs2235371IRF6 · 209,790,735C;Ccommon in clinvarTypical
- rs2235375IRF6 · 209,792,242G;Gcommon in clinvarTypical
- rs2013162IRF6 · 209,795,339C;Ccommon in clinvarTypical
- rs861019IRF6 · 209,802,041A;Acommon in clinvarTypical
- rs2235377IRF6 · 209,802,047T;Tcommon in complete genomicsTypical
- rs10863790209,814,702A;Acommon in complete genomicsTypical
- rs642961209,815,925A;A2.40x increased risk of cleft lipWorth knowing
- rs1614866211,527,316G;Gcommon genotypeTypical
- rs17018311INTS7 · 211,981,666T;Tcommon in complete genomicsTypical
- rs438034CENPF · 214,657,274G;GnormalTypical
- rs6667764KCNK2 · 215,107,880G;Gcommon in complete genomicsTypical
- rs10494994KCNK2 · 215,188,864G;Gcommon in complete genomicsTypical
- rs111033367USH2A · 216,190,280-;-Usher syndrome, type 2AVery important
- rs7532570USH2A · 216,330,927A;ANo summary available.Typical
- rs991967TGFB2 · 218,442,109A;Acommon in clinvarTypical
- rs1417066LOC102723886 · 219,500,486G;Grisk of osteoarthritisMinor
- rs12563333LOC105372929 · 220,484,892C;Ccommon in complete genomicsTypical
- rs7530302LOC105372928 · 220,491,610G;Gcommon in complete genomicsTypical
- rs12740310MARK1 · 220,589,182C;CNo summary available.Typical
- rs3008621MIA3 · 222,630,704G;GNo summary available.Typical
- rs17465637MIA3 · 222,650,187C;C1.34x higher risk for myocardial infarctionMinor
- rs2291834MIA3 · 222,658,953C;Cvery slightly higher risk for myocardial infarctionMinor
- rs11579964224,351,238C;Ccommon on affy axiom dataTypical
- rs16844841LBR · 225,402,973A;Acommon in clinvarTypical
- rs16844846LBR · 225,405,225T;Tcommon genotypeTypical
- rs2230419LBR · 225,419,442C;Ccommon in clinvarTypical
- rs12034829ENAH · 225,516,585A;Acommon in complete genomicsTypical
- rs2639703ENAH · 225,625,209A;ANo summary available.Typical
- rs17503834ENAH · 225,648,975C;CNo summary available.Minor
- rs2292566EPHX1 · 225,831,952G;Gcommon in complete genomicsTypical
- rs2234922EPHX1 · 225,838,705A;Acommon in clinvarTypical
- rs1009668TMEM63A · 225,852,703C;Ccommon in complete genomicsTypical
- rs2295418LEFTY2 · 225,937,685G;Gcommon in clinvarTypical
- rs1136410PARP1 · 226,367,601G;G0.80x reduced risk for glioblastoma as well a 84% in CAD riskWorth knowing
- rs1805413PARP1 · 226,368,136G;Gcommon in complete genomicsTypical
- rs3219119PARP1 · 226,368,742A;Tcommon in complete genomicsTypical
- rs3219090PARP1 · 226,376,990C;Tcommon in complete genomicsTypical
- rs1805410PARP1 · 226,380,964T;Tcommon in complete genomicsTypical
- rs1295645PSEN2 · 226,871,336C;Ccommon in clinvarTypical
- rs2073489PSEN2 · 226,875,970C;TNo summary available.Typical
- rs11405PSEN2 · 226,881,976T;Tcommon in clinvarTypical
- rs6759PSEN2 · 226,882,036C;Ccommon in clinvarTypical
- rs150400387PSEN2 · 226,883,747C;TPossible Alzheimer's disease mutation - see discussionVery important
- rs63749851PSEN2 · 226,885,545A;CEarly-onset Alzheimer's diseaseVery important
- rs63750197PSEN2 · 226,885,570C;Tlikely miscall for 23andMe and Ancestry users; otherwise, possible Alzheimer's disease association but causation unclear; dilated cardiomyopathyVery important
- rs63750812PSEN2 · 226,885,623A;GAlzheimer's disease association reported; see discussionVery important
- rs61757781PSEN2 · 226,888,112G;GCarrier of possibly damaging mutation leading to Alzheimer's DiseaseMinor
- rs1800680PSEN2 · 226,888,283G;Gcommon/normalTypical
- rs367855127PSEN2 · 226,888,974C;TPossible early-onset Alzheimer's disease mutation; see discussionVery important
- rs63749884PSEN2 · 226,888,979A;Gearly-onset Alzheimer's disease; penetrance not 100%Very important
- rs63750110PSEN2 · 226,895,548A;Cearly-onset Alzheimer's disease? or just a benign variant?Very important
- rs79023478OBSCN · 228,315,865A;APossibly benign, but possibly some connection to cardiovascular issuesMinor
- rs71180793OBSCN · 228,371,745-;CLeft ventricular noncompaction possible (likely?)Very important
- rs801112228,860,875T;Tcommon in complete genomicsTypical
- rs801114228,862,088G;G1.28x increased Basal Cell Carcinoma risk.Worth knowing
- rs16849553229,201,099T;Tcommon genotypeTypical
- rs1124110GALNT2 · 230,175,226T;Tcommon in complete genomicsTypical
- rs7079AGT · 230,702,585G;Gcommon in clinvarTypical
- rs1926723AGT · 230,704,350T;Tcommon in clinvarTypical
- rs699AGT · 230,710,048G;Gincreased risk of hypertensionWorth knowing
- rs4762AGT · 230,710,231G;Gnormal riskTypical
- rs3889728AGT · 230,713,085T;Tincreased risk for preeclampsiaTypical
- rs5051AGT · 230,714,126C;Cnormal riskTypical
- rs5050AGT · 230,714,140T;Tcommon in clinvarTypical
- rs11568020AGT · 230,714,272C;Ccommon in clinvarTypical
- rs12038826LOC107985359 · 230,787,205T;Tcommon genotypeTypical
- rs11558492GNPAT · 231,272,345C;TNo summary available.Typical
- rs751229TSNAX-DISC1 · 231,632,793C;CNo summary available.Worth knowing
- rs3738401TSNAX-DISC1 · 231,694,549A;ANo summary available.Worth knowing
- rs3738402TSNAX-DISC1 · 231,767,264C;Ccommon in complete genomicsTypical
- rs6675281DISC2 · 231,818,355C;CcommonTypical
- rs821589TSNAX-DISC1 · 231,955,186C;Ccommon in complete genomicsTypical
- rs821616TSNAX-DISC1 · 232,008,852T;Tcognitive decline in older womenTypical
- rs16856202TSNAX-DISC1 · 232,019,405T;Tcommon in complete genomicsTypical
- rs3737597TSNAX-DISC1 · 232,037,092G;Gcommon in complete genomicsTypical
- rs9424490LOC645395 · 232,886,124C;Ccommon in complete genomicsTypical
- rs12027542PCNX2 · 233,204,408A;Acommon on affy axiom dataTypical
- rs908327LOC101927851 · 234,956,853A;Acommon genotypeTypical
- rs7520258GPR137B · 236,149,827T;Tcommon in complete genomicsTypical
- rs966365EDARADD · 236,394,471G;Gcommon in clinvarTypical
- rs12749581MTR · 236,803,548G;Gcommon in complete genomicsTypical
- rs1770449MTR · 236,874,861T;Tcommon in clinvarTypical
- rs1805087MTR · 236,885,200A;Acommon in clinvarTypical
- rs2853523MTR · 236,898,898A;Acommon in clinvarTypical
- rs1050993MTR · 236,899,005A;Acommon in clinvarTypical
- rs3768160MTR · 236,899,132T;Tcommon in complete genomicsTypical
- rs2050656RYR2 · 237,347,614C;Ccommon in complete genomicsTypical
- rs16835237RYR2 · 237,423,084T;Tcommon in clinvarTypical
- rs17686573RYR2 · 237,492,989C;Ccommon in clinvarTypical
- rs34967813RYR2 · 237,678,090A;Acommon in clinvarTypical
- rs632407238,613,962C;Ccommon in complete genomicsTypical
- rs2820037239,273,242A;AnormalTypical
- rs6677208CHRM3 · 239,438,669A;Acommon in complete genomicsTypical
- rs2355230CHRM3 · 239,621,865A;ANo summary available.Typical
- rs2165870CHRM3 · 239,622,120A;A2x higher risk for post-operative nauseaWorth knowing
- rs7548522CHRM3 · 239,835,325C;Ccommon in complete genomicsTypical
- rs11810574FMN2 · 240,120,436A;ANo summary available.Typical
- rs17672135FMN2 · 240,282,296T;T1.3x risk of heart diseaseWorth knowing
- rs11545655FH · 241,504,129C;Ccommon in clinvarTypical
- rs11545658FH · 241,508,662G;Gcommon in clinvarTypical
- rs3902093RPL6P3 · 241,832,601C;Ccommon in complete genomicsTypical
- rs3754093EXO1 · 241,846,814A;Gcommon in complete genomicsTypical
- rs1635498EXO1 · 241,881,973T;Tcommon on affy axiom dataTypical
- rs2919024PLD5 · 242,358,740A;Acommon genotypeTypical
- rs871840KIF26B · 245,686,793C;Ccommon/normalTypical
- rs3738443LOC100131465 · 247,184,887C;CNo summary available.Typical
- rs7525979NLRP3 · 247,424,106C;Ccommon in clinvarTypical
- rs3806268NLRP3 · 247,424,175G;Gcommon in clinvarTypical
- rs145268073NLRP3 · 247,424,912A;GPossible cryopyrin-associated syndrome mutationImportant
- rs35829419NLRP3 · 247,425,556C;Ccommon on affy axiom dataTypical
- rs10754558NLRP3 · 247,448,734G;Gcommon in clinvarTypical
- rs12065526OR2B11 · 247,451,105G;Gcommon in complete genomicsTypical
- rs10733113247,459,055G;GNo summary available.Typical
- rs7550918GCSAML · 247,512,257T;Tcommon genotypeTypical
- rs4481887248,333,561A;Amost likely to smell asparagus metabolites in urineWorth knowing
- rs4916176LOC101928226 · 248,697,340A;ANo summary available.Typical
No matches.
Source and license
Adapted from SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.