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: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
A 0.840 CausalMutation CLINVAR
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease
T 0.820 CausalMutation CLINVAR
dbSNP: rs869312907
rs869312907
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
T 0.810 CausalMutation CLINVAR
dbSNP: rs869312907
rs869312907
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
0.810 GeneticVariation UNIPROT
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: rs121912870
rs121912870
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912872
rs121912872
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912875
rs121912875
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0700635
Disease:
Strudwick syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912877
rs121912877
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912878
rs121912878
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease:
Achondrogenesis type 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912879
rs121912879
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0220685
Disease:
Achondrogenesis type 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs121912880
rs121912880
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912881
rs121912881
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912882
rs121912882
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C1851536
Disease:
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912883
rs121912883
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
G 0.800 CausalMutation CLINVAR
dbSNP: rs121912884
rs121912884
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912885
rs121912885
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912886
rs121912886
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912888
rs121912888
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease:
Achondrogenesis type 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912889
rs121912889
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1835437
Disease:
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
C 0.800 CausalMutation CLINVAR
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912895
rs121912895
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs121912898
rs121912898
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular
T 0.800 CausalMutation CLINVAR
dbSNP: rs387906558
rs387906558
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
T 0.800 CausalMutation CLINVAR