DSG2, desmoglein 2, 1829

N. diseases: 6; N. variants: 36
Disease: Cardiomyopathy, Dilated ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397516706
rs397516706 		0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2010 2013
dbSNP: rs758537946
rs758537946 		18 31531044 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 2 2011 2013