rs376395543, MYBPC3

N. diseases: 3
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 0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05 0.700 1.000 10 2004 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05 0.700 1.000 7 2004 2017
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05 0.700 0