rs121964857, TNNT2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Familial Hypertrophic, 2
30 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.800 1.000 13 1994 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.710 1.000 1 2003 2003
Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.700 0
Hypertrophic obstructive cardiomyopathy
90 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.010 1.000 1 2003 2003