rs121434555
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
0.800
GeneticVariation
UNIPROT
Consensus statement on standard of care for congenital muscular dystrophies.
21078917
2010
rs794727188
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
0.800
GeneticVariation
UNIPROT
Consensus statement on standard of care for congenital muscular dystrophies.
21078917
2010
rs121434553
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
T
0.800
CausalMutation
CLINVAR
rs121434553
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
0.800
GeneticVariation
UNIPROT
rs121434555
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
C
0.800
CausalMutation
CLINVAR
rs794727188
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
T
0.800
CausalMutation
CLINVAR
rs2645775
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Vital capacity
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs6719451
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Body Height
C
0.700
GeneticVariation
GWASCAT
Evaluation and application of summary statistic imputation to discover new height-associated loci.
29782485
2018
rs397515332
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
G
0.700
CausalMutation
CLINVAR
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
27447704
2017
rs7599762
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Tonometry
0.700
GeneticVariation
GWASCAT
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.
29235454
2017
rs886042883
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
T
0.700
CausalMutation
CLINVAR
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
28688748
2017
rs878854379
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Congenital muscular dystrophy (disorder)
A
0.700
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
rs878854379
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
A
0.700
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
rs886042883
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
The role of mutations in COL6A3 in isolated dystonia.
26872670
2016
rs1559234260
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
A
0.700
GeneticVariation
CLINVAR
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
26004199
2015
rs182976977
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
DYSTONIA 27
0.700
GeneticVariation
UNIPROT
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
26004199
2015
rs541928674
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
DYSTONIA 27
0.700
GeneticVariation
UNIPROT
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
26004199
2015
rs552651651
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
DYSTONIA 27
0.700
GeneticVariation
UNIPROT
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
26004199
2015
rs767517186
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
G
0.700
CausalMutation
CLINVAR
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
26004199
2015
rs777304794
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
A
0.700
CausalMutation
CLINVAR
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
26247046
2015
rs886042883
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
26004199
2015
rs1268762655
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
T
0.700
GeneticVariation
CLINVAR
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
24038877
2013
rs1553553646
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
A
0.700
CausalMutation
CLINVAR
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
24038877
2013
rs397515332
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
BETHLEM MYOPATHY 1
G
0.700
CausalMutation
CLINVAR
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
24038877
2013
rs886042883
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
24038877
2013