COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912882
rs121912882
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C1851536
Disease:
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		0.800 GeneticVariation UNIPROT Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 9800905 1998
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: 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: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1851536
Disease:
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1851536
Disease:
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		T 0.700 CausalMutation CLINVAR