COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1025202963
rs1025202963
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1034762
rs1034762
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.700 GeneticVariation GWASDB Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. 22763110 2012
dbSNP: rs1057518908
rs1057518908
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0036439
Disease:
Scoliosis, unspecified 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518908
rs1057518908
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1846442
Disease:
Hypoplastic acetabulae 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518908
rs1057518908
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1384666
Disease:
hearing impairment 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518908
rs1057518908
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0026760
Disease:
Multiple Epiphyseal Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518908
rs1057518908
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1328407
Disease:
Hip Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518908
rs1057518908
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0349588
Disease:
Short stature 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518911
rs1057518911
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0426790
Disease:
Narrow thorax 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518911
rs1057518911
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1849937
Disease:
Disproportionate short-limb short stature 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1193507525
rs1193507525
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita 		0.700 GeneticVariation UNIPROT
dbSNP: rs1193507525
rs1193507525
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease 		0.010 GeneticVariation BEFREE In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. 24949742 2014
dbSNP: rs1193507525
rs1193507525
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0410480
Disease:
Avascular Necrosis of Femur Head 		0.010 GeneticVariation BEFREE In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. 24949742 2014
dbSNP: rs1209546147
rs1209546147
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0410528
Disease:
Skeletal dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1215825701
rs1215825701
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita 		0.010 GeneticVariation BEFREE Using this screening procedure we have been able to identify a new (Gly895 to Ser) mutation in the COL2A1 gene of a patient with a mild form of spondyloepiphyseal dysplasia congenita. 7705841 1995
dbSNP: rs121912864
rs121912864
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0542428
Disease:
Hypochondrogenesis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519. 8507190 1993
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia. 1985108 1991
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 1975693 1990
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		0.800 GeneticVariation UNIPROT Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis. 7757086 1995
dbSNP: rs121912865
rs121912865
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912866
rs121912866
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2020284
Disease:
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita 		0.700 GeneticVariation UNIPROT The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. 8423604 1993
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita 		0.700 GeneticVariation UNIPROT Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 8325895 1993
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita 		0.700 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990