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: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.760 1.000 13 1990 2019
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.010 1.000 1 2015 2015
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.010 1.000 1 2014 2014