rs61630004
A SNP in the KRT85 gene on chromosome 12. Its most notable genotype is T;T: significance unclear; slight change related to ectodermal dysplasia
- Gene
- KRT85
- Location
- Chr 1252,367,173 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 3%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableNot ratedsignificance unclear; slight change related to ectodermal dysplasia
- C;TNot ratedsignificance unclear; possibly a carrier for an ectodermal dysplasia allele
- C;CGoodcommon in clinvar
SNPedia records rs61630004 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
aka c.233G>A, p.Arg78His and R78H The rs61630004(A) allele is reported as pathogenic when homozygous (i.e. recessively inherited) for "pure" ectodermal dysplasia in two sets of Pakistani families., However, the minor allele frequency appears to be around 1-3% in most populations, and as GET-Evidence states, this makes it unlikely that (A;A) homozygotes are routinely afflicted by ectodermal dysplasia, since it has an incidence of only around .02-.01% (1 or 2 in 10,000).
T;T
see discussion at rs61630004
C;T
see rs61630004
Source and license
Adapted from rs61630004 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.