COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026848
Disease:
Myopathy
T 0.700 GeneticVariation CLINVAR
dbSNP: rs797045479
rs797045479
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026848
Disease:
Myopathy
A 0.700 CausalMutation CLINVAR