rs6151429
A SNP in the ARSA gene on chromosome 22. Its most notable genotype is C;C: pseudoarylsulfatase A deficiency (possible)
- Gene
- ARSA
- Location
- Chr 2250,625,049 (GRCh38)
- Highest magnitude
- 3.3Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 4%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadcarrier of one pseudoarylsulfatase A deficiency allele
- C;CMost notableBadpseudoarylsulfatase A deficiency (possible)
SNPedia records rs6151429 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 9 HapMap populations.
- AverageT;T 91% C;T 9% C;C <1%
- European ancestry (Utah)T;T 82% C;T 18% C;C 0%
- Han Chinese (Beijing)T;T 93% C;T 7% C;C 0%
- Japanese (Tokyo)T;T 97% C;T 3% C;C 0%
- Yoruba (Nigeria)T;T 100% C;T 0% C;C 0%
- Chinese (Denver)T;T 95% C;T 6% C;C 0%
- Gujarati IndianT;T 82% C;T 18% C;C 0%
- Mexican ancestry (Los Angeles)T;T 95% C;T 5% C;C 0%
- Maasai (Kenya)T;T 96% C;T 4% C;C 0%
- TuscanT;T 81% C;T 17% C;C 2%
Related
Other ARSA SNPs
- rs74315472A;Amiscalled by 23andMe; otherwise, when correct, Metachromatic leukodystrophy alleleImportant
- rs28940893A;GCarrier of a metachromatic leukodystrophy mutationImportant
- rs74315455C;TCarrier of a metachromatic leukodystrophy mutationImportant
- rs74315467A;GCarrier of a metachromatic leukodystrophy mutationImportant
- rs80338815C;TCarrier of a metachromatic leukodystrophy mutationImportant
- rs743616G;Gcommon in clinvarTypical
- rs2071421T;Tcommon in clinvarTypical
Notes
From SNPedia
Notes
rs6151429, also known as c.*96A>G, is a relatively common mutation (up to 5% or so of individuals carry the G/G genotype) in the polyadenylation signal of the ARSA gene on chromosome 22. The minor allele, rs6151429(G), may lead to lower ARSA enzymatic activity, and when two copies are inherited, to pseudoarylsulfatase A deficiency. However, sufficient functional enzyme is usually present to avoid sulfatide accumulation, so this does not cause metachromatic leukodystrophy (MLD). For more information, recommended sources include Gene Reviews and OMIM 607574.0001. This SNP is referred to as i6007566 by 23andMe.
C;T
see discussion at rs6151429
C;C
see discussion at rs6151429
Source and license
Adapted from rs6151429 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.