rs76151636
A SNP in the ATP7B gene on chromosome 13. Its most notable genotype is T;T: Wilson's disease; variable age of onset
- Gene
- ATP7B
- Location
- Chr 1351,944,145 (GRCh38)
- Highest magnitude
- 5.7Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- G;TBadCarrier of a Wilson's disease mutation
- T;TMost notableBadWilson's disease; variable age of onset
On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ATP7B SNPs
- rs28942074A;AWilson's disease; variable age of onsetVery important
- rs28942075C;TCarrier of a Wilson disease mutationImportant
- rs28942076C;TCarrier of a Wilson disease mutationImportant
- rs60431989A;GCarrier of a Wilson disease mutationImportant
- rs72552255A;GCarrier of a Wilson disease mutationImportant
- rs121907990C;TCarrier of a Wilson disease mutationImportant
- rs121907992C;TCarrier of a Wilson disease mutationImportant
- rs121907993C;GCarrier of a Wilson disease mutationImportant
Notes
From SNPedia
Notes
aka c.3207C>A, p.His1069Gln, H1069Q This is commonly considered the most frequent ATP7B gene associated with Wilson's disease in European populations. FTDNA & MyHeritage name: VG13S52444 23andMe name: i5053895 The Wilson disease gene: spectrum of mutations and their consequences. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
G;T
Unaffected in absence of a second pathogenic mutation; see Wilson's disease and ATP7B
T;T
See Wilson's disease and ATP7B.
Source and license
Adapted from rs76151636 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.