Source: ALL

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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.840 1.000 50 1989 2019
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0