rs539793378
A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is G;T: Polycystic Kidney Disease (predicted)
- Gene
- PKD1
- Location
- Chr 162,108,868 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- G;TMost notableBadPolycystic Kidney Disease (predicted)
On SNPedia: (G;G), (G;T). 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.6299C>A (p.Ser2100Ter) Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease
Source and license
Adapted from rs539793378 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.