Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751040647
rs751040647
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010