rs104894845
A SNP in the GLA gene on chromosome X. Its most notable genotype is C;T: Familial hypertrophic cardiomyopathy possible; but significance is uncertain
- Gene
- GLA
- Location
- Chr X101,401,752 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial hypertrophic cardiomyopathy possible; but significance is uncertain
- C;CGoodcommon in clinvar
SNPedia records rs104894845 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
Show notes, about 140 words
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to . However, multiple submitters also indicate that the significance of this variant is really unclear at this time. The following statement by Invitae in ClinVar summarizes the situation very clearly: "In summary, this variant has been seen in many patients described with a milder Fabry disease phenotype and causes reduced alpha-galactosidase enzyme activity. However, this variant occurs at an appreciable frequency in population databases, asymptomatic adult relatives have been identified, and most patient do not have evidence of storage on tissue biopsy. For these reasons, this change has been classified as a Variant of Uncertain Significance."
C;T
see discussion at rs104894845
Source and license
Adapted from rs104894845 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.