rs28936670

A SNP in the NKX2-5 gene on chromosome 5. Its most notable genotype is G;G: common in clinvar

Gene
NKX2-5
Location
Chr 5173,235,011 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableGoodcommon in clinvarTypical · 0.0
  2. C;CNot ratedreversed normalTypical · 0.0

SNPedia records rs28936670 on the minus strand: (C;C), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other NKX2-5 SNPs

All NKX2-5 SNPs

Notes

From SNPedia

Notes

Analysis of body height in 829 patients with different forms of testicular pathology. Atrial form and function: lessons from human molecular genetics. Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. NKX2.5 mutations in patients with non-syndromic congenital heart disease.

C;C

orientation

Source and license

Adapted from rs28936670 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.