rs118204448
A SNP in the GALNS gene on chromosome 16. Its most notable genotype is C;T: Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
- Gene
- GALNS
- Location
- Chr 1688,835,240 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadCarrier of an Mucopolysaccharidosis, MPS-IV-A mutation
- C;CGoodcommon in clinvar
- A;CBadCarrier of an Mucopolysaccharidosis, MPS-IV-A mutation
SNPedia records rs118204448 on the minus strand: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GALNS SNPs
- rs118204435C;GCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204436A;GCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204438A;TCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204439A;GCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204440C;TCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204441C;GCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204442C;TCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
- rs118204443A;CCarrier of an Mucopolysaccharidosis, MPS-IV-A mutationImportant
Notes
From SNPedia
Notes
aka c.871G>T (p.Ala291Ser) and also c.871G>A (p.Ala291Thr)
C;T
Unaffected in absence of a second GALNS gene mutation
A;C
Unaffected in absence of a second GALNS gene mutation
Source and license
Adapted from rs118204448 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.