COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 GeneticVariation UNIPROT Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 21671384 2011
dbSNP: rs387906558
rs387906558
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 GeneticVariation UNIPROT Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 21671384 2011
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 GeneticVariation UNIPROT Type II collagen gene variants and inherited osteonecrosis of the femoral head. 15930420 2005
dbSNP: rs387906558
rs387906558
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 GeneticVariation UNIPROT Type II collagen gene variants and inherited osteonecrosis of the femoral head. 15930420 2005
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: 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
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138498898
rs138498898
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138498898
rs138498898
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		T 0.700 CausalMutation CLINVAR