COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Disease: Congenital muscular dystrophy (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854379
rs878854379
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016