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: rs397515870
rs397515870
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101400692 missense variant G/C;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 27 1989 2016
dbSNP: rs397515870
rs397515870
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101400692 missense variant G/C;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0