rs760222236

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

Gene
PKHD1
Location
Chr 651,753,281 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

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

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

rs760222236, also known as c.8870T>C, I2957T or p.Ile2957Thr, is a mutation in the PKHD1 gene, associated with polycystic kidney disease. The rare rs760222236(G) allele when inherited in two copies or as a compound heterozygote leads to the disease. This SNP is referred to as i5000045 and i6016633 by 23andMe.

A;G

see PKHD1 see discussion at rs760222236

G;G

see discussion at rs760222236

Source and license

Adapted from rs760222236 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.