rs397515937, MYBPC3

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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 12 1995 2014
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 11 1995 2014
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 3 1995 2014
LEFT VENTRICULAR NONCOMPACTION 10
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
20 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 0