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: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.780 1.000 38 1989 2019
dbSNP: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2013 2013