rs148812376
A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is A;A: Autosomal dominant polycystic kidney disease (predicted)
- Gene
- PKD1
- Location
- Chr 162,099,955 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadAutosomal dominant polycystic kidney disease (predicted)
- A;GBadPolycystic Kidney Disease (predicted)
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (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
- 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
- rs199476100A;GPolycystic Kidney Disease (predicted)Very important
Notes
From SNPedia
Notes
aka c.9829C>T, p.Arg3277Cys and R3277C Considered a hypomorphic mutation in terms of end-stage renal disease (ESRD) and autosomal dominant polycystic kidney disease; when homozygous, associated with adult onset ADPKD and when heterozygous more likely to result in the development of just a few cysts.
A;A
See discussion on main rs-page.
Source and license
Adapted from rs148812376 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.