rs121907993
A SNP in the ATP7B gene on chromosome 13. Its most notable genotype is C;G: Carrier of a Wilson disease mutation
- Gene
- ATP7B
- Location
- Chr 1351,949,772 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
- Minor allele frequency
- 0%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GMost notableBadCarrier of a Wilson disease mutation
SNPedia records rs121907993 on the minus strand: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
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
C;G
Unaffected in absence of a second ATP7B gene mutation; see links via main rs-page
Source and license
Adapted from rs121907993 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.