COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
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: rs767517186
rs767517186
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		G 0.700 CausalMutation CLINVAR Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015