rs200520583
A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is A;G: Polycystic Kidney Disease (predicted)
- Gene
- PKD1
- Location
- Chr 162,102,857 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadPolycystic Kidney Disease (predicted)
- G;GGoodcommon/normal
On SNPedia: (A;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.8905C>T (p.Gln2969Ter) The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.
Source and license
Adapted from rs200520583 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.