rs2071421
A SNP in the ARSA gene on chromosome 22. Its most notable genotype is T;T: common in clinvar
- Gene
- ARSA
- Location
- Chr 2250,625,988 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 21%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableGoodcommon in clinvar
- C;TGoodBenign variant (on its own)
- C;CGoodBenign variant (on its own)
- A;ANot ratedNo summary available.
SNPedia records rs2071421 on the minus strand: (A;A), (A;G), (G;G), (T;T). 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 59% C;T 34% C;C 7% A;A 0%
- European ancestry (Utah)T;T 75% C;T 23% C;C 2% A;A 0%
- Han Chinese (Beijing)T;T 64% C;T 34% C;C 3% A;A 0%
- Japanese (Tokyo)T;T 69% C;T 30% C;C <1% A;A 0%
- Yoruba (Nigeria)T;T 37% C;T 42% C;C 21% A;A 0%
- African ancestry (Southwest US)T;T 42% C;T 46% C;C 12% A;A 0%
- Chinese (Denver)T;T 63% C;T 36% C;C <1% A;A 0%
- Gujarati IndianT;T 77% C;T 23% C;C 0% A;A 0%
- Luhya (Kenya)T;T 46% C;T 42% C;C 13% A;A 0%
- Mexican ancestry (Los Angeles)T;T 57% C;T 33% C;C 10% A;A 0%
- Maasai (Kenya)T;T 43% C;T 46% C;C 12% A;A 0%
- TuscanT;T 72% C;T 25% C;C 4% A;A 0%
Related
Other ARSA SNPs
- rs6151429C;Cpseudoarylsulfatase A deficiency (possible)Important
- 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
Source and license
Adapted from rs2071421 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.