rs144143780
A SNP in the SGSH gene on chromosome 17. Its most notable genotype is C;C: Sanfilippo syndrome type A
- Gene
- SGSH
- Location
- Chr 1780,210,822 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadSanfilippo syndrome type A
- C;TBadCarrier for a Sanfilippo syndrome type A mutation
- T;TGoodcommon/normal
On SNPedia: (C;C), (C;T), (T;T). 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
- rs104894637C;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
rs144143780, also known as c.1139A>G, p.Gln380Arg and Q380R, represents a rare mutation in the SGSH gene on chromosome 17. Although still rare, the Q380R mutation is considered one of the most frequent pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).
C;C
see links at rs144143780
C;T
Unaffected unless carrying another pathogenic SGSH gene mutation; see links at rs144143780
Source and license
Adapted from rs144143780 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.