Source: CLINVAR

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: rs794728602
rs794728602
1.000 0.040 1 156115168 missense variant G/A snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.700 0
dbSNP: rs794728602
rs794728602
1.000 0.040 1 156115168 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs794728602
rs794728602
1.000 0.040 1 156115168 missense variant G/A snv
CUI: C1843392
Disease: Death in childhood
Death in childhood
0.700 0