COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033544
rs111033544
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
C 0.800 CausalMutation CLINVAR
dbSNP: rs111033545
rs111033545
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
G 0.800 CausalMutation CLINVAR
dbSNP: rs111033546
rs111033546
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
G 0.800 CausalMutation CLINVAR
dbSNP: rs111033549
rs111033549
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
G 0.800 CausalMutation CLINVAR
dbSNP: rs111033550
rs111033550
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
T 0.800 CausalMutation CLINVAR
dbSNP: rs111033551
rs111033551
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
T 0.800 CausalMutation CLINVAR
dbSNP: rs111033552
rs111033552
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
G 0.800 GeneticVariation CLINVAR
dbSNP: rs111033552
rs111033552
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
G 0.800 CausalMutation CLINVAR
dbSNP: rs111033553
rs111033553
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
T 0.800 CausalMutation CLINVAR
dbSNP: rs111033554
rs111033554
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
C 0.800 CausalMutation CLINVAR
dbSNP: rs111033555
rs111033555
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
G 0.800 CausalMutation CLINVAR
dbSNP: rs111033543
rs111033543
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
C 0.700 CausalMutation CLINVAR
dbSNP: rs111033547
rs111033547
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
T 0.700 CausalMutation CLINVAR
dbSNP: rs111033548
rs111033548
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
T 0.700 CausalMutation CLINVAR
dbSNP: rs111033556
rs111033556
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
T 0.700 CausalMutation CLINVAR
dbSNP: rs1271742789
rs1271742789
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.700 GeneticVariation UNIPROT
dbSNP: rs1562122372
rs1562122372
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
A 0.700 CausalMutation CLINVAR
dbSNP: rs111033544
rs111033544
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033545
rs111033545
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033546
rs111033546
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033549
rs111033549
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033550
rs111033550
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033551
rs111033551
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033552
rs111033552
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995
dbSNP: rs111033553
rs111033553
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type
0.800 GeneticVariation UNIPROT Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 7607655 1995