rs375882485, MYBPC3

N. diseases: 5
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.
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.800 1.000 20 1995 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.720 1.000 8 2003 2018
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
163 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.700 1.000 16 2003 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.700 1.000 6 1998 2013
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.020 1.000 2 2010 2018