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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.860 1.000 18 1989 2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0