rs137852944

A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is A;A: Polycystic kidney disease

Gene
PKHD1
Location
Chr 652,083,201 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadcarrier of an autosomal recessive polycystic kidney disease mutationImportant · 3.0
  3. A;AMost notableBadPolycystic kidney diseaseVery important · 6.0

SNPedia records rs137852944 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.

Conditions, medicines and genes

Other PKHD1 SNPs

All PKHD1 SNPs

Notes

From SNPedia

Notes

rs137852944, also known as T36M or Thr36Met, is a SNP in the PKHD1 gene. It is the most common mutation leading to polycystic kidney disease in those of European ancestry. This SNP is referred to as i5012611 by 23andMe, as well as by an older name, rs28939383.

A;G

see PKHD1

Source and license

Adapted from rs137852944 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.