rs137853280
A SNP in the ATP7B gene on chromosome 13. Its most notable genotype is C;G: Unaffected carrier of a Wilson disease mutation
- Gene
- ATP7B
- Location
- Chr 1351,965,034 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GMost notableBadUnaffected carrier of a Wilson disease mutation
- C;CGoodcommon in clinvar
- A;CBadUnaffected carrier of a Wilson disease mutation
SNPedia records rs137853280 on the minus strand: (C;C), (C;G), (G;G), (G;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
- 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
Show notes, about 140 words
Two pathogenic mutations are reported in ClinVar for ATP7B gene SNP rs137853280: c.1708-1G>A and c.1708-1G>C. Note that Ancestry data always reports (incorrectly) rs137853280 as "GG" (on the forward strand) for all of its customers. Since no other DTC company returns data for rs137853280, SNPedia has been edited to indicate rs13785320(C;C) as a common/normal genotype, even though technically it should represent the minor homozygote and an affected individual predicted to develop Wilson's disease. The editing of the SNPedia entry allows Promethease to correctly indicate to Ancestry users that they are predicted to carry the common/normal genotype, despite the error in Ancestry raw data.
C;G
Unaffected in absence of a second ATP7B gene mutation; see links via main rs-page.
A;C
Unaffected in absence of a second ATP7B gene mutation; see links via main rs-page.
Source and license
Adapted from rs137853280 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.