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: rs121912889
rs121912889
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		C 0.710 CausalMutation CLINVAR
dbSNP: rs1025202963
rs1025202963
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1 		T 0.700 CausalMutation CLINVAR
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: rs1209546147
rs1209546147
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0410528
Disease:
Skeletal dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912864
rs121912864
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0542428
Disease:
Hypochondrogenesis 		T 0.700 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: C0542428
Disease:
Hypochondrogenesis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912868
rs121912868
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0542428
Disease:
Hypochondrogenesis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912869
rs121912869
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912871
rs121912871
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912873
rs121912873
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1851536
Disease:
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0432214
Disease:
Namaqualand hip dysplasia 		A 0.700 CausalMutation CLINVAR