rs61750427

A SNP in the PEX1 gene on chromosome 7. Its most notable genotype is G;G: Deafness with enamel hypoplasia nail defects

Gene
PEX1
Location
Chr 792,494,357 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadDeafness with enamel hypoplasia nail defectsVery important · 5.0
  2. A;GBadCarrier of a pathogenic mutation for a form of deafnessImportant · 3.0
  3. A;AGoodcommon/normalTypical · 0.0

SNPedia records rs61750427 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PEX1 SNPs

All PEX1 SNPs

Notes

From SNPedia

Notes

PEX1 gene, c.2966T>C (p.Ile989Thr) The minor allele is reported as pathogenic in ClinVar for a form of deafness including enamel hypoplasia nail defects, a recessively inherited condition.

G;G

see discussion

A;G

Unaffected unless carrying another pathogenic mutation in the PEX1 gene

Source and license

Adapted from rs61750427 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.