rs121912883
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912886
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912867
COL2A1;LOC105369752
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
rs121912879
COL2A1;LOC105369752
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
rs121912870
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11746045
2001
rs121912874
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11746045
2001
rs121912883
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11746045
2001
rs121912886
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11746045
2001
rs121912867
COL2A1;LOC105369752
Spondyloepiphyseal dysplasia, congenita
0.700
GeneticVariation
UNIPROT
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11746045
2001
rs121912879
COL2A1;LOC105369752
Spondyloepiphyseal dysplasia, congenita
0.700
GeneticVariation
UNIPROT
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11746045
2001
rs121912870
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
rs121912874
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
rs121912883
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
rs121912886
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
0.800
GeneticVariation
UNIPROT
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
rs121912867
COL2A1;LOC105369752
Spondyloepiphyseal dysplasia, congenita
0.700
GeneticVariation
UNIPROT
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
rs121912879
COL2A1;LOC105369752
Spondyloepiphyseal dysplasia, congenita
0.700
GeneticVariation
UNIPROT
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
rs121912870
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912874
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912883
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912886
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912867
COL2A1;LOC105369752
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
rs121912879
COL2A1;LOC105369752
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
rs121912870
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912874
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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
rs121912883
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
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