Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		T 0.710 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009