COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
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: rs117725825
rs117725825
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs117725825
rs117725825
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.800 CausalMutation CLINVAR