DSG2, desmoglein 2, 1829

N. diseases: 6; N. variants: 36
Disease: Hypertrophic Cardiomyopathy ×
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: rs786204291
rs786204291 		1.000 0.040 18 31522152 missense variant A/C;G snv 4.0E-06; 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0