rs371898076, MYH7

N. diseases: 9
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 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.800 1.000 15 1992 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.710 1.000 17 1999 2016
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 10 1999 2017
CARDIOMYOPATHY, DILATED, 1S
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
41 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
Distal Myopathy 1
CUI: C4552004
Disease: Distal Myopathy 1
35 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
Myopathy, Hyaline Body, Autosomal Recessive
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
11 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
MYOPATHY, MYOSIN STORAGE (disorder)
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
14 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
X-Linked Emery-Dreifuss Muscular Dystrophy
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
33 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
45 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 0