rs104894637
A SNP in the SGSH gene on chromosome 17. Its most notable genotype is C;C: Sanfilippo syndrome type A
- Gene
- SGSH
- Location
- Chr 1780,217,084 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GBadCarrier of a Sanfilippo syndrome type A mutation
- C;CMost notableBadSanfilippo syndrome type A
SNPedia records rs104894637 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SGSH SNPs
- rs104894635T;TSanfilippo syndrome type AVery important
- rs144143780C;CSanfilippo syndrome type AVery important
- rs770947426-;-Sanfilippo syndrome type AVery important
- rs34520362A;GCarrier of a Sanfilippo syndrome type A mutationImportant
- rs104894636A;GCarrier of a Sanfilippo syndrome type A mutationImportant
- rs104894638C;TCarrier of a Sanfilippo syndrome type A mutationImportant
- rs104894639C;TCarrier of a Sanfilippo syndrome type A mutationImportant
- rs104894640C;TCarrier of a Sanfilippo syndrome type A mutationImportant
Notes
From SNPedia
Notes
rs104894637, also known as c.197C>G, p.Ser66Trp and S66W, represents a rare mutation in the SGSH gene on chromosome 17. Although still rare, the S66W mutation is considered one of the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
C;G
Unaffected unless carrying another pathogenic SGSH gene mutation; see links at rs104894637
C;C
see links at rs104894637
Source and license
Adapted from rs104894637 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.