rs752114168
A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is C;C: Polycystic Kidney Disease (predicted)
- Gene
- PKD1
- Location
- Chr 162,106,877 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadPolycystic Kidney Disease (predicted)
- C;GBadCarrier of a polycystic kidney disease mutation; inheritance unclear
- G;GGoodcommon/normal
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PKD1 SNPs
- rs1616940A;GPolycystic Kidney Disease (predicted)Very important
- rs2432403A;GPolycystic Kidney Disease (predicted)Very important
- rs148812376A;AAutosomal dominant polycystic kidney disease (predicted)Very important
- rs151257298A;GPolycystic Kidney Disease (predicted)Very important
- rs199476094A;GPolycystic Kidney Disease (predicted)Very important
- rs199476095A;GPolycystic Kidney Disease (predicted)Very important
- rs199476098G;TPolycystic Kidney Disease (predicted)Very important
- rs199476099A;CPolycystic Kidney Disease (predicted)Very important
Notes
From SNPedia
Notes
c.7137C>G (p.Tyr2379Ter) There's a bit of disagreement over whether this variant acts recessively or dominantly with respect to polycystic kidney disease. ClinVar lists the c.7137(G) allele as recessive; the PKD Foundation lists it as 'definitely pathogenic' for autosomal dominant PKD.
C;G
Could be dominant or recessive; see discussion on main rs-page
Source and license
Adapted from rs752114168 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.