rs398124502

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

Gene
PKHD1
Location
Chr 651,747,927 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. -;-Most notableBadPolycystic Kidney diseaseVery important · 6.0
  2. -;TBadcarrier of an autosomal recessive polycystic kidney disease mutationImportant · 3.0
  3. T;TGoodcommon in clinvarTypical · 0.0

SNPedia records rs398124502 on the minus strand: (-;-), (-;A), (A;A). 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

rs398124502, also known as c. 9689del A. or p.Asp3230fs, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs398124502(-), is considered causative for autosomal recessive polycystic kidney disease. This SNP is most likely referred to as i5012610 by 23andMe.

-;T

see PKHD1 see discussion at rs398124502; be aware that if your raw data actually came from 23andMe's i5012610 SNP, until they choose to reveal what that SNP actually tests this is a best case but is not confirmed.

Source and license

Adapted from rs398124502 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.