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: rs794728096
rs794728096
0.923 0.071 18 31546445 frameshift variant GAGAG/G in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 2011 2013
dbSNP: rs794728096
rs794728096
0.923 0.071 18 31546445 frameshift variant GAGAG/G in-del
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
0.700 1 2017 2017
dbSNP: rs794728096
rs794728096
0.923 0.071 18 31546445 frameshift variant GAGAG/G in-del
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB
0.700 0