rs587782951

A SNP in the JPH2 gene on chromosome 20. Its most notable genotype is G;T: Familial hypertrophic cardiomyopathy risk

Gene
JPH2
Location
Chr 2044,160,305 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;TMost notableBadFamilial hypertrophic cardiomyopathy riskVery important · 5.0
  2. G;GGoodcommon in clinvarTypical · 0.0

SNPedia records rs587782951 on the minus strand: (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other JPH2 SNPs

All JPH2 SNPs

Notes

From SNPedia

Notes

aka c.482C>A, p.Thr161Lys or T161K This variant in the JPH2 gene is considered in ClinVar as a variant of uncertain significance with respect to familial hypertrophic cardiomyopathy. However, a 2018 publication based on Finnish patients concludes that the rs58782951(A) mutation is indeed pathogenic for HCM, with a penetrance of 71% by age 60 and 100% by age 80.

G;T

see text on main rs-page

Source and license

Adapted from rs587782951 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.