rs104894635
A SNP in the SGSH gene on chromosome 17. Its most notable genotype is T;T: Sanfilippo syndrome type A
- Gene
- SGSH
- Location
- Chr 1780,213,815 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadSanfilippo syndrome type A
- C;TBadCarrier for a Sanfilippo syndrome type A mutation
- C;CGoodcommon in clinvar
SNPedia records rs104894635 on the minus strand: (A;A), (A;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
- rs104894637C;CSanfilippo 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
rs104894635, also known as c.734G>A, p.Arg245His and R245H, represents a rare mutation in the SGSH gene on chromosome 17. Although still rare, the R245H mutation is considered the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
T;T
see links at rs104894635
C;T
Unaffected unless carrying another pathogenic SGSH gene mutation; see links at rs104894635
Source and license
Adapted from rs104894635 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.