TCAP, titin-cap, 8557

N. diseases: 49; N. variants: 15
Source: ALL
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: rs149585781
rs149585781
0.925 0.040 17 39666063 missense variant G/A snv 2.1E-04 2.1E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs748358368
rs748358368
1.000 0.040 17 39665999 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
Cardiovascular Diseases 0.010 1.000 1 2004 2004