rs369925690

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

Gene
PKHD1
Location
Chr 652,071,009 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBadPolycystic Kidney diseaseVery important · 6.0
  2. C;TBadcarrier of an autosomal recessive polycystic kidney disease mutationImportant · 3.0
  3. T;TGoodcommon/normalTypical · 0.0

On SNPedia: (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

rs369925690, also known as c.664A>G, I222V or p.Ile222Val, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs369925690(C), is considered causative for autosomal recessive Polycystic kidney disease. This SNP is referred to as i5000047 by 23andMe.

C;T

see PKHD1

Source and license

Adapted from rs369925690 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.