rs1061472
A SNP in the ATP7B gene on chromosome 13. Its most notable genotype is T;T: common in clinvar
- Gene
- ATP7B
- Location
- Chr 1351,950,352 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 49%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1061472 on the minus strand: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 31%
- European ancestry (Utah)T;T 20%
- Han Chinese (Beijing)T;T 36%
- Japanese (Tokyo)T;T 50%
- Yoruba (Nigeria)T;T 22%
- African ancestry (Southwest US)T;T 37%
- Chinese (Denver)T;T 32%
- Gujarati IndianT;T 35%
- Luhya (Kenya)T;T 29%
- Mexican ancestry (Los Angeles)T;T 26%
- Maasai (Kenya)T;T 38%
- TuscanT;T 18%
Related
Other ATP7B SNPs
- rs28942074A;AWilson's disease; variable age of onsetVery important
- rs76151636T;TWilson'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
Notes
From SNPedia
Notes
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
Source and license
Adapted from rs1061472 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.