Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913628
rs121913628
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. 1417858

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. 1638703

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. 8268932

1993
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. 8899546

1996
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. 10024460

1999
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. 10024460

1999
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. 10024460

1999
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 10065021

1998
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. 10329202

1999