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: rs182976977
rs182976977
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs541928674
rs541928674
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs552651651
rs552651651
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs398124119
rs398124119
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		A 0.700 CausalMutation CLINVAR
dbSNP: rs764193290
rs764193290
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs767517186
rs767517186
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786205870
rs786205870
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT