rs375882485, 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 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.800 1.000 0 1995 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.720 1.000 7 2003 2018
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
93 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
332 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.700 1.000 6 1998 2013