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 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: 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 		T 0.810 GeneticVariation GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
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: 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: 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
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
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 of COL10A1 in Schmid metaphyseal chondrodysplasia. 15880705 2005
dbSNP: rs111033554
rs111033554
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: rs111033555
rs111033555
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 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 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 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: rs111033549
rs111033549
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: rs111033550
rs111033550
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: rs111033551
rs111033551
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: rs111033552
rs111033552
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: rs111033553
rs111033553
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: rs111033554
rs111033554
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: rs111033555
rs111033555
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 the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 9067753 1997
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