Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912883
rs121912883
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 8325895 1993
dbSNP: rs121912886
rs121912886
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 8325895 1993
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 8325895 1993
dbSNP: rs121912879
rs121912879
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 8325895 1993
dbSNP: rs121912870
rs121912870
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912883
rs121912883
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912886
rs121912886
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912879
rs121912879
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912870
rs121912870
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
dbSNP: rs121912883
rs121912883
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
dbSNP: rs121912886
rs121912886
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
dbSNP: rs121912879
rs121912879
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
dbSNP: rs121912870
rs121912870
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990
dbSNP: rs121912883
rs121912883
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990
dbSNP: rs121912886
rs121912886
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990
dbSNP: rs121912867
rs121912867
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990
dbSNP: rs121912879
rs121912879
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.700 GeneticVariation UNIPROT Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 2339128 1990
dbSNP: rs121912870
rs121912870
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. 8423604 1993
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. 8423604 1993
dbSNP: rs121912883
rs121912883
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease:
Spondyloepiphyseal dysplasia, congenita
0.800 GeneticVariation UNIPROT The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. 8423604 1993