rs199473684

A SNP in the RPL36A-HNRNPH2 gene on chromosome X. Its most notable genotype is T;T: Fabry disease

Gene
RPL36A-HNRNPH2
Location
Chr X101,399,747 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadFabry diseaseVery important · 6.0
  2. C;TBadCarrier of a Fabry disease mutation; X-linked so risk is to sonsImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs199473684 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.

Conditions, medicines and genes

Other RPL36A-HNRNPH2 SNPs

All RPL36A-HNRNPH2 SNPs

Notes

From SNPedia

Notes

rs199473684, also known as c.639+919G>A, represents a variant in the GLA gene on the X chromosome. The minor allele, rs199473684(A), is reported to be pathogenic for Fabry disease. An extensive discussion of whether this variant is pathogenic can be found in ; the consensus among three labs was that it is. Based on , this mutation leads to the cardiac variant phenotype of Fabry disease.

C;T

Mostly unaffected in absence of a second GLA gene mutation; see text and links via main rs-page

Source and license

Adapted from rs199473684 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.