rs121909374, MYBPC3

N. diseases: 6
Source: CLINVAR ×
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
96 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.800 1.000 36 1990 2017
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
93 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 24 1990 2015
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 16 1997 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 11 1997 2017
LEFT VENTRICULAR NONCOMPACTION 10
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
18 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 4 1997 2013
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
32 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 0