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: rs397516784
rs397516784
0.923 0.071 6 118558961 inframe deletion AAGA/A in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 8 2006 2013
dbSNP: rs397516784
rs397516784
0.923 0.071 6 118558961 inframe deletion AAGA/A in-del
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 6 2006 2017
dbSNP: rs397516784
rs397516784
0.923 0.071 6 118558961 inframe deletion AAGA/A in-del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 3 2006 2014
dbSNP: rs397516784
rs397516784
0.923 0.071 6 118558961 inframe deletion AAGA/A in-del
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
0.700 0