COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906608
rs387906608
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.810 CausalMutation CLINVAR
dbSNP: rs117725825
rs117725825
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.800 GeneticVariation UNIPROT
dbSNP: rs117725825
rs117725825
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs267606747
rs267606747
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
C 0.800 GeneticVariation CLINVAR
dbSNP: rs1057518925
rs1057518925
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026850
Disease:
Muscular Dystrophy
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518925
rs1057518925
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1858127
Disease:
Limb-girdle muscle weakness
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518925
rs1057518925
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0015672
Disease:
Fatigue
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518925
rs1057518925
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1856877
Disease:
Hyperextensible hand joints
G 0.700 GeneticVariation CLINVAR
dbSNP: rs113828929
rs113828929
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121912942
rs121912942
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C4225638
Disease:
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR
dbSNP: rs121912942
rs121912942
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1850671
Disease:
Myosclerosis, Autosomal Recessive
T 0.700 CausalMutation CLINVAR
dbSNP: rs1255514828
rs1255514828
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
0.700 GeneticVariation UNIPROT
dbSNP: rs1375040481
rs1375040481
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs138948335
rs138948335
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs139552940
rs139552940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026848
Disease:
Myopathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1427750922
rs1427750922
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1850671
Disease:
Myosclerosis, Autosomal Recessive
C 0.700 GeneticVariation CLINVAR
dbSNP: rs150168522
rs150168522
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0231712
Disease:
Waddling gait
A 0.700 GeneticVariation CLINVAR
dbSNP: rs150168522
rs150168522
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0333068
Disease:
Flexion contracture
A 0.700 GeneticVariation CLINVAR
dbSNP: rs150168522
rs150168522
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0016202
Disease:
Flatfoot
A 0.700 GeneticVariation CLINVAR
dbSNP: rs150168522
rs150168522
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555873353
rs1555873353
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555873356
rs1555873356
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555873507
rs1555873507
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555873508
rs1555873508
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
G 0.700 CausalMutation CLINVAR