rs118203942
A SNP in the ARSB gene on chromosome 5. Its most notable genotype is C;T: Carrier of a mucopolysaccharidosis type VI mutation
- Gene
- ARSB
- Location
- Chr 578,984,965 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadCarrier of a mucopolysaccharidosis type VI mutation
- C;CGoodcommon in clinvar
SNPedia records rs118203942 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
aka c.284G>A (p.Arg95Gln)
C;T
Unaffected in absence of a second ARSB gene mutation; clinical presentation varies widely even then.
Source and license
Adapted from rs118203942 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.