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: rs730882262
rs730882262
0.851 0.160 1 156135293 missense variant T/C;G snv
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy
0.710 1.000 0 2015 2015
dbSNP: rs730882262
rs730882262
0.851 0.160 1 156135293 missense variant T/C;G snv
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset
0.700 0
dbSNP: rs730882262
rs730882262
0.851 0.160 1 156135293 missense variant T/C;G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 0