Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
0.800 GeneticVariation UNIPROT MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 17336526

2007
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606908
rs267606908
MYH7
C 0.700 CausalMutation CLINVAR

dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR

dbSNP: rs3218716
rs3218716
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs371898076
rs371898076
MYH7
T 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999
dbSNP: rs371898076
rs371898076
MYH7
T 0.700 CausalMutation CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.700 CausalMutation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.700 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR

dbSNP: rs397516171
rs397516171
MYH7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397516264
rs397516264
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727504753
rs727504753
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730880761
rs730880761
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224900
rs863224900
MYH7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs104894805
rs104894805
EMD
0.800 GeneticVariation UNIPROT Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. 15009215

2004
dbSNP: rs104894805
rs104894805
EMD
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894805
rs104894805
EMD
0.800 GeneticVariation UNIPROT Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. 15328537

2004
dbSNP: rs104894805
rs104894805
EMD
0.800 GeneticVariation UNIPROT How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? 11587540

2001
dbSNP: rs104894805
rs104894805
EMD
0.800 GeneticVariation UNIPROT Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 10323252

1999
dbSNP: rs104894806
rs104894806
EMD
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894806
rs104894806
EMD
0.800 GeneticVariation UNIPROT Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. 15009215

2004