rs727504348
A SNP in the GLA gene on chromosome X. Its most notable genotype is C;T: Familial hypertrophic cardiomyopathy (possible)
- Gene
- GLA
- Location
- Chr X101,397,982 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial hypertrophic cardiomyopathy (possible)
- C;CGoodcommon in clinvar
SNPedia records rs727504348 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
Conditions, medicines and genes
Other GLA SNPs
- rs397515870T;TFabry diseaseVery important
- rs28935196G;GFabry diseaseVery important
- rs28935197C;CFabry diseaseVery important
- rs28935486A;AFabry diseaseVery important
- rs28935488G;GFabry diseaseVery important
- rs28935493T;TFabry diseaseVery important
- rs104894827A;AFabry diseaseVery important
- rs104894834A;AFabry diseaseVery important
Notes
From SNPedia
Notes
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to .
C;T
see discussion at rs727504348
Source and license
Adapted from rs727504348 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.