|
rs3812111
|
COL10A1;NT5DC1
|
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 |
|
rs1064583
|
COL10A1;NT5DC1
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation |
BEFREE |
<i>RAD51B</i> (rs8017304 and rs2588809), <i>TRIB1</i> (rs6987702, rs4351379, and rs4351376), <i>COL8A1</i> (rs13095226), and <i>COL10A1</i> (rs1064583) Gene Variants with Predisposition to Age-Related Macular Degeneration.
|
31191752 |
2019 |
|
rs111033548
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia
|
|
0.010 |
GeneticVariation |
BEFREE |
Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
|
30010889 |
2018 |
|
rs111033552
|
COL10A1;NT5DC1
|
Dwarfism
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus rs111033552 had priority for linkage with dwarfism.
|
29234170 |
2018 |
|
rs142463796
|
COL10A1;NT5DC1
|
Kashin-Beck Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the COL10A1 gene (OR = 9.832 and P = 6 × 10<sup>-3</sup> and OR = 1.242, P = 0.043, respectively) and rs548354451 (p.Asp272Glu) in the HABP2 gene (OR = 2.813, P = 0.010) were associated with KBD patients.
|
28651521 |
2017 |
|
rs2228547
|
COL10A1;NT5DC1
|
Kashin-Beck Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the COL10A1 gene (OR = 9.832 and P = 6 × 10<sup>-3</sup> and OR = 1.242, P = 0.043, respectively) and rs548354451 (p.Asp272Glu) in the HABP2 gene (OR = 2.813, P = 0.010) were associated with KBD patients.
|
28651521 |
2017 |
|
rs1064583
|
COL10A1;NT5DC1
|
Myopia
|
|
0.700 |
GeneticVariation |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
rs3812111
|
COL10A1;NT5DC1
|
Age related macular degeneration
|
|
0.810 |
GeneticVariation |
GWASDB |
Seven new loci associated with age-related macular degeneration.
|
23455636 |
2013 |
|
rs3812111
|
COL10A1;NT5DC1
|
Age related macular degeneration
|
T |
0.810 |
GeneticVariation |
GWASCAT |
Seven new loci associated with age-related macular degeneration.
|
23455636 |
2013 |
|
rs11965969
|
COL10A1;NT5DC1
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
A genetic association between the COL10A1 rs11965969 polymorphism and OA was also found.
|
20498197 |
2010 |
|
rs111033544
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033545
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033546
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033549
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033550
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033551
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033553
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033554
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033555
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
|
rs111033544
|
COL10A1;NT5DC1
|
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 |
|
rs111033545
|
COL10A1;NT5DC1
|
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 |
|
rs111033546
|
COL10A1;NT5DC1
|
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 |
|
rs111033549
|
COL10A1;NT5DC1
|
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 |
|
rs111033550
|
COL10A1;NT5DC1
|
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 |