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: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2010 2013
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.700 0