COL6A1, collagen type VI alpha 1 chain, 1291

N. diseases: 164; N. variants: 45
Disease: BETHLEM MYOPATHY 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11553519
rs11553519
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT