Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111812846
rs111812846
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398495 missense variant C/G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 2 2005 2016