rs200511261
A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is G;G: Polycystic Kidney disease
- Gene
- PKHD1
- Location
- Chr 651,748,086 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon/normal
- A;GBadcarrier of an autosomal recessive polycystic kidney disease mutation
- G;GMost notableBadPolycystic Kidney disease
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 PKHD1 SNPs
- rs368263958A;AAutosomal recessive polycystic kidney diseaseVery important
- i5000044A;Apolycystic kidney diseaseVery important
- i5000046A;APolycystic kidney diseaseVery important
- rs28937907A;Apossible polycystic kidney diseaseVery important
- rs28939383A;APolycystic kidney diseaseVery important
- rs137852944A;APolycystic kidney diseaseVery important
- rs137852946T;Tpossible polycystic kidney diseaseVery important
- rs137852949A;APolycystic Kidney diseaseVery important
Notes
From SNPedia
Notes
rs200511261, also known as c.9530T>C, p.Ile3177Thr or I3177T, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs200511261(G), is considered causative for autosomal recessive Polycystic kidney disease. This SNP is referred to as i5000043 and i6016654 by 23andMe.
A;G
see PKHD1
Source and license
Adapted from rs200511261 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.