DSG2, desmoglein 2, 1829

N. diseases: 6; N. variants: 36
Disease: Cardiomyopathies ×
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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0