COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Disease: DYSTONIA 27 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767517186
rs767517186
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		G 0.700 CausalMutation CLINVAR