Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913654
rs121913654
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		G 0.810 CausalMutation CLINVAR
dbSNP: rs28933098
rs28933098
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121913649
rs121913649
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121913650
rs121913650
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs145734640
rs145734640
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1850709
Disease:
Myopathy, Hyaline Body, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28933098
rs28933098
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0751337
Disease:
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs797044599
rs797044599
Entrez Id: 4625;100126336;104564225
Gene Symbol: MYH7;MIR208B;MHRT
MYH7;MIR208B;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		G 0.710 CausalMutation CLINVAR
dbSNP: rs797044602
rs797044602
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		G 0.710 CausalMutation CLINVAR
dbSNP: rs1114167322
rs1114167322
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1834481
Disease:
CARDIOMYOPATHY, DILATED, 1S 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913648
rs121913648
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913654
rs121913654
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3150690
Disease:
LEFT VENTRICULAR NONCOMPACTION 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121913654
rs121913654
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs138110910
rs138110910
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3150690
Disease:
LEFT VENTRICULAR NONCOMPACTION 5 		Y 0.700 CausalMutation CLINVAR
dbSNP: rs145213771
rs145213771
Entrez Id: 4625;100126336;104564225
Gene Symbol: MYH7;MIR208B;MHRT
MYH7;MIR208B;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs1555336467
rs1555336467
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555336492
rs1555336492
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1566521710
rs1566521710
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs193922390
rs193922390
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs267606909
rs267606909
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3150690
Disease:
LEFT VENTRICULAR NONCOMPACTION 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs367543052
rs367543052
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs367543052
rs367543052
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.700 CausalMutation CLINVAR
dbSNP: rs367543052
rs367543052
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		ATCT 0.700 CausalMutation CLINVAR
dbSNP: rs369940645
rs369940645
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.700 GeneticVariation CLINVAR