COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Strudwick syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912875
rs121912875
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915 2005
dbSNP: rs121912880
rs121912880
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915 2005
dbSNP: rs121912881
rs121912881
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915 2005
dbSNP: rs121912895
rs121912895
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915 2005
dbSNP: rs121912875
rs121912875
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
dbSNP: rs121912880
rs121912880
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
dbSNP: rs121912881
rs121912881
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
dbSNP: rs121912895
rs121912895
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
dbSNP: rs121912875
rs121912875
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0700635
Disease:
Strudwick syndrome 		A 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: rs121912895
rs121912895
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912871
rs121912871
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease:
Strudwick syndrome 		T 0.700 CausalMutation CLINVAR