Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 GeneticVariation UNIPROT MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied. 17336526

2007
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 GeneticVariation BEFREE MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied. 17336526

2007
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 GeneticVariation UNIPROT Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 16684601

2006
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 GeneticVariation UNIPROT Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 15136674

2004
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 GeneticVariation UNIPROT Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 14520662

2003
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		A 0.810 CausalMutation CLINVAR