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: rs3812111
rs3812111
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0242383
Disease:
Age related macular degeneration 		0.810 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs3812111
rs3812111
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0242383
Disease:
Age related macular degeneration 		0.810 GeneticVariation BEFREE Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort. 31819893 2019
dbSNP: rs111033544
rs111033544
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. 8304336 1994
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 within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. 8782043 1996
dbSNP: rs111033544
rs111033544
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. 9852679 1998
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: 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 the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 9067753 1997
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
dbSNP: rs111033544
rs111033544
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. 7876225 1995
dbSNP: rs111033544
rs111033544
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 8004099 1994
dbSNP: rs111033545
rs111033545
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 8004099 1994
dbSNP: rs111033545
rs111033545
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. 9852679 1998
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: rs111033545
rs111033545
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
dbSNP: rs111033545
rs111033545
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. 7876225 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 Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. 8304336 1994
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 within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. 8782043 1996
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 the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 9067753 1997
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 within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. 8782043 1996
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: rs111033546
rs111033546
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 8004099 1994
dbSNP: rs111033546
rs111033546
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. 8304336 1994
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 the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 9067753 1997
dbSNP: rs111033546
rs111033546
Entrez Id: 1300;221294
Gene Symbol: COL10A1;NT5DC1
COL10A1;NT5DC1
CUI: C0265289
Disease:
Metaphyseal chondrodysplasia Schmid type 		0.800 GeneticVariation UNIPROT Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. 9852679 1998
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005