rs201082169

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

Gene
PKHD1
Location
Chr 651,659,952 (GRCh38)
Highest magnitude
6.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

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

On SNPedia: (A;A), (A;G), (G;G). 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

rs201082169, also known as c.10174C>T or p.Gln3392X, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs201082169(A), is considered causative for autosomal recessive Polycystic kidney disease. This SNP is referred to as i5000046 and i6016608 by 23andMe.

A;A

see discussion at rs201082169

A;G

see discussion at rs201082169 and PKHD1

Source and license

Adapted from rs201082169 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.