rs28940893
A SNP in the ARSA gene on chromosome 22. Its most notable genotype is A;G: Carrier of a metachromatic leukodystrophy mutation
- Gene
- ARSA
- Location
- Chr 2250,625,392 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadCarrier of a metachromatic leukodystrophy mutation
SNPedia records rs28940893 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ARSA SNPs
- rs6151429C;Cpseudoarylsulfatase A deficiency (possible)Important
- rs74315472A;Amiscalled by 23andMe; otherwise, when correct, Metachromatic leukodystrophy alleleImportant
- 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
aka c.1283C>T (p.Pro428Leu or P428L) rs28940893 and rs80338815 are considered the two most frequent variants associated with metachromatic leukodystrophy in Caucasians. 23andMe name: i5012765
A;G
Unaffected in absence of a second ARSA gene mutation
Source and license
Adapted from rs28940893 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.