rs137852949
A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is A;A: Polycystic Kidney disease
- Gene
- PKHD1
- Location
- Chr 652,058,349 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadcarrier of an autosomal recessive polycystic kidney disease mutation
- A;AMost notableBadPolycystic Kidney disease
SNPedia records rs137852949 on the minus strand: (C;C), (C;T), (T;T). 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
- rs199531851A;APolycystic kidney diseaseVery important
Notes
From SNPedia
Notes
rs137852949, also known as c.1486C>T or p.Arg496Ter, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs199531851(T), is considered causative for autosomal recessive Polycystic kidney disease. This SNP is referred to as i5012612 by 23andMe.
A;G
see PKHD1
Source and license
Adapted from rs137852949 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.