rs397516847, TNNC1

N. diseases: 2
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, 13
6 0.925 0.080 3 52451443 missense variant C/A snv 1.4E-05 0.700 1.000 5 2001 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.080 3 52451443 missense variant C/A snv 1.4E-05 0.020 1.000 2 2008 2017