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: rs1801253
rs1801253
0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
Cardiovascular Diseases 0.020 1.000 2 2002 2012