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: rs121434553
rs121434553
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121434553
rs121434553
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.800 GeneticVariation UNIPROT
dbSNP: rs121434555
rs121434555
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
C 0.800 CausalMutation CLINVAR
dbSNP: rs794727188
rs794727188
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs112638391
rs112638391
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
0.700 GeneticVariation UNIPROT
dbSNP: rs114284669
rs114284669
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.700 GeneticVariation UNIPROT
dbSNP: rs121434554
rs121434554
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs139260335
rs139260335
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553553313
rs1553553313
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553553646
rs1553553646
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553561409
rs1553561409
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs1559225974
rs1559225974
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559261557
rs1559261557
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs398124119
rs398124119
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27
A 0.700 CausalMutation CLINVAR
dbSNP: rs398124119
rs398124119
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs398124119
rs398124119
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225636
Disease:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
T 0.700 CausalMutation CLINVAR
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0557874
Disease:
Global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026848
Disease:
Myopathy
T 0.700 GeneticVariation CLINVAR
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs761796175
rs761796175
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs763348222
rs763348222
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs764193290
rs764193290
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27
C 0.700 GeneticVariation CLINVAR
dbSNP: rs764193290
rs764193290
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs764193290
rs764193290
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
C 0.700 GeneticVariation CLINVAR