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: rs794728589
rs794728589
1.000 0.036 1 156115275 splice donor variant G/A,C snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 2013 2013
dbSNP: rs794728589
rs794728589
1.000 0.036 1 156115275 splice donor variant G/A,C snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1 2014 2014