DSG2, desmoglein 2, 1829

N. diseases: 6; N. variants: 36
Disease: Cardiomyopathy, Dilated, 1BB ×
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: rs1064794709
rs1064794709 		1.000 0.040 18 31546340 frameshift variant T/- delins
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		Cardiovascular Diseases 0.700 0
dbSNP: rs121913013
rs121913013 		0.925 0.080 18 31519887 missense variant G/A snv 1.9E-03 1.8E-03
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516706
rs397516706 		0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		Cardiovascular Diseases 0.700 0
dbSNP: rs553299589
rs553299589 		0.925 0.080 18 31521244 splice donor variant G/A;C;T snv 4.2E-06; 1.3E-05; 4.2E-06
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		Cardiovascular Diseases 0.700 0