Autism

57 SNPs linked to Autism across 19 genes, 17 with a genotype of magnitude 2 or higher.

Type: Condition
SNPs: 57
Notable: 17Magnitude 2 or higher
Well documented: 23
Genes: 19

Linked SNPs

Every genotype, as shown in 23andMe and AncestryDNA files.

rs757972971SLC7A5Very important
- A;APossible autism spectrum disorder genotypeBad
- A;GCarrier of possible autism related alleleBad
- G;Gcommon/normalGood
rs4307059Important
- C;CReduced Autism riskGood
- C;T1.19x risk of AutismBad
- T;T1.42x risk of AutismBad
rs1801133MTHFRWorth knowing
- G;GCommon genotype: normal homocysteine levelsGood
- A;G1 copy of C677T allele of MTHFR = 65% efficiency in processing folic acidBad
- A;Ahomozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levelsBad
rs10513025Worth knowing
- C;C>0.55x reduced risk for autismGood
- C;T0.55x reduced risk for autismGood
- T;Tnormal risk of AutismBad
rs1804197APCWorth knowing
- A;AIncreased risk of familial colorectal cancer and Asperger's syndromeBad
- A;CIncreased risk of familial colorectal cancer and Asperger's syndromeBad
- C;Ccommon in complete genomicsGood
rs1858830METWorth knowing
- C;C2x risk of autism reported by some (but not other) publicationsBad
- C;G1.6x increased autism riskBad
- G;GnormalGood
rs2710102CNTNAP2Worth knowing
- G;Ghigher risk of speech development delay and/or impairmentBad
- A;GNo summary available.Not rated
- A;ADelayed childhood speech.Not rated
rs3819331PTSWorth knowing
- C;Cincreased risk of autismBad
- C;Tincreased risk of autismBad
- T;Tlower risk of autismGood
rs6596189C5orf66Worth knowing
- T;TNo summary available.Not rated
rs6807362HTR3CWorth knowing
- C;Cincreased autism riskBad
- C;Gnormal autism riskNot rated
- G;Gdecreased autism riskGood
rs7794745CNTNAP2Worth knowing
- A;Anormal risk (for autism)Good
- A;Tslightly increased risk for autismBad
- T;Tslightly increased risk for autismBad
rs167771DRD3Minor
- A;ANo summary available.Not rated
- G;GNo summary available.Not rated
rs2351299GABRB1Minor
- G;Gnormal risk of autismNot rated
- G;Tpossible reduced risk of AutismGood
- T;Tpossible reduced risk of autismGood
rs3923890ROBO3Minor
- A;Alower social interactionBad
- A;TNo summary available.Not rated
- T;Tnormal social interactionGood
rs686DRD1Typical
- G;GNo summary available.Not rated
rs4532DRD1Typical
- C;CNo summary available.Not rated
rs265981DRD1Typical
- A;ANo summary available.Not rated
rs759178CNTNAP2Typical
- C;Chigher risk of speech development delay and/or impairmentNot rated
- A;CNo summary available.Not rated
- A;ANo summary available.Not rated
rs1042714ADRB2Typical
- C;CnormalGood
- C;Gcomplex; see details for increased risksNot rated
- G;Gcomplex; see details for increased risksNot rated
rs1811399NPAS2Typical
- C;CNo summary available.Not rated
- A;ANo summary available.Good
rs1861973EN2Typical
- C;CNo summary available.Good
- T;Tcommon in clinvarGood
rs2745557PTGS2Typical
- A;Aautism risk?Not rated
- A;Gautism risk?Not rated
- G;GnormalGood
rs12740310MARK1Typical
- C;CNo summary available.Good
rs863225079PPP2R5DVery important
- A;GNeurodevelopmental disorder-associated mutationBad
- G;Gcommon in clinvarGood
rs863225080PPP2R5DVery important
- A;GNeurodevelopmental disorder-associated mutationBad
- G;Gcommon in clinvarGood
rs863225081PPP2R5DVery important
- A;GNeurodevelopmental disorder-associated mutationBad
- G;Gcommon in clinvarGood
rs863225082PPP2R5DVery important
- A;GNeurodevelopmental disorder-associated mutationBad
- G;Gcommon in clinvarGood
rs397514705SHANK3Very important
- C;Ccommon in clinvarGood
- C;GPossible: Phelan-McDermid syndrome (autism-like?)Bad
rs797044936SHANK3Very important
- -;-common/normalGood
- -;GPossible: Phelan-McDermid syndrome (autism-like)Bad

Genes

Genosets

Gs240Autism associatedMinor

Genosets combine several genotypes. Twofold checks them in your report.

Other SNPs

No notable genotype or detailed notes

Show 28 SNPs

Source and license

Adapted from Autism on 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.