Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. 24661928

2014