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: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398403 missense variant G/C;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.710 1.000 1 2017 2017
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398403 missense variant G/C;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2017 2017
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398403 missense variant G/C;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 1.000 1 2017 2017