rs28942074
A SNP in the ATP7B gene on chromosome 13. Its most notable genotype is A;A: Wilson's disease; variable age of onset
- Gene
- ATP7B
- Location
- Chr 1351,958,333 (GRCh38)
- Highest magnitude
- 5.7Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TBadCarrier of a Wilson disease mutation
- C;CGoodcommon in clinvar
- A;CBadCarrier of a Wilson's disease mutation
- A;AMost notableBadWilson's disease; variable age of onset
SNPedia records rs28942074 on the minus strand: (A;G), (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
- 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
- rs121907993C;GCarrier of a Wilson disease mutationImportant
Notes
From SNPedia
Notes
aka c.2333G>T, p.Arg778Leu, R778L This mutation is commonly considered the most frequent ATP7B gene mutation associated with Wilson's disease in Asian populations.
C;T
Unaffected in absence of a second ATP7B gene mutation; see links via main rs-page
A;C
Unaffected in absence of a second pathogenic mutation; see Wilson's disease and ATP7B
A;A
See Wilson's disease and ATP7B.
Source and license
Adapted from rs28942074 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.