COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312907
rs869312907
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.810 GeneticVariation BEFREE We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type. 26183434 2015
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: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs760093841
rs760093841
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1480620991
rs1480620991
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.010 GeneticVariation BEFREE Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. 26183434 2015