rs2435322

A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is C;C: common in complete genomics

Gene
PKHD1
Location
Chr 652,010,452 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
3%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in complete genomicsTypical · 0.086% of people
  2. A;CGoodconsidered benignTypical · 0.013% of people
  3. A;AGoodcommon in clinvarTypical · 0.01% of people

SNPedia records rs2435322 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 6 HapMap populations.

  • AverageC;C 86% A;C 13% A;A 1%
  • Han Chinese (Beijing)C;C 100% A;C 0% A;A 0%
  • Japanese (Tokyo)C;C 100% A;C 0% A;A 0%
  • Yoruba (Nigeria)C;C 67% A;C 29% A;A 4%
  • African ancestry (Southwest US)C;C 86% A;C 14% A;A 0%
  • Luhya (Kenya)C;C 70% A;C 28% A;A 3%
  • Maasai (Kenya)C;C 90% A;C 9% A;A <1%

Other PKHD1 SNPs

All PKHD1 SNPs

Notes

From SNPedia

Notes

Although a SNP in the PKHD1 gene, this variant is considered benign in ClinVar and not causative for any disorder.

Source and license

Adapted from rs2435322 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.