Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by <i>GLA</i>(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). 28798024

2017