rs199531851
A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is A;A: Polycystic kidney disease
- Gene
- PKHD1
- Location
- Chr 652,046,182 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadPolycystic kidney disease
- A;GBadcarrier of an autosomal recessive polycystic kidney disease mutation
- G;GGoodcommon/normal
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
rs199531851, also known as c.2414C>T, p.Pro805Leu or P805L, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs199531851(A), is considered causative for autosomal recessive Polycystic kidney disease. This SNP is referred to as i5000044 and i6016699 by 23andMe.
A;A
see discussion at rs199531851
A;G
see PKHD1 see discussion at rs199531851
Source and license
Adapted from rs199531851 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.