rs368263958

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

Gene
PKHD1
Location
Chr 651,909,466 (GRCh38)
Highest magnitude
7.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadAutosomal recessive polycystic kidney diseaseVery important · 7.0
  2. A;GBadCarrier of an autosomal recessive polycystic kidney disease mutationImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0
  4. G;TBadCarrier of a rare variant in the PKHD1 gene, of uncertain significanceImportant · 3.0

On SNPedia: (A;A), (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other PKHD1 SNPs

All PKHD1 SNPs

Notes

From SNPedia

Notes

A;G

see PKHD1; c.6499C>T (p.Gln2167Ter)

G;T

c.6499C>A (p.Gln2167Lys); note that this is a very rare variant, currently designated as "of uncertain significance" in ClinVar

Source and license

Adapted from rs368263958 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.