COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Kniest dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912877
rs121912877
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		0.800 GeneticVariation UNIPROT The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. 8863156 1996
dbSNP: rs121912877
rs121912877
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		0.800 GeneticVariation UNIPROT A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. 7874117 1994
dbSNP: rs121912877
rs121912877
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1565686170
rs1565686170
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		G 0.700 GeneticVariation CLINVAR Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. 23188137 2013
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776847
rs587776847
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		T 0.700 CausalMutation CLINVAR