rs573916965, MYBPC3

N. diseases: 4
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 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.800 1.000 9 1995 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.720 1.000 0 2008 2010
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.700 0
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
19 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.700 0