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: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101399747 3 prime UTR variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 14 2002 2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101399747 3 prime UTR variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 13 2002 2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101399747 3 prime UTR variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0