rs104894847
A SNP in the RPL36A-HNRNPH2 gene on chromosome X. Its most notable genotype is G;G: Fabry disease
- Gene
- RPL36A-HNRNPH2
- Location
- Chr X101,407,846 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadFabry disease
- C;GBadCarrier of a Fabry disease mutation; X-linked so risk is to sons
- C;CGoodcommon in clinvar
SNPedia records rs104894847 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
Notes
From SNPedia
Notes
C;G
Mostly unaffected in absence of a second GLA gene mutation; see text and links via main rs-page
Source and license
Adapted from rs104894847 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.