rs397516269, MYH7

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.
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
93 0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 0.800 1.000 3 1992 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 0.700 1.000 9 1997 2012
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 0.700 1.000 3 1998 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 0.700 0