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: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101397982 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 17 1995 2017
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101397982 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 1995 2007