COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3812111
rs3812111 		1.000 0.040 6 116122572 intron variant T/A snv 0.47
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 2 2013 2019
dbSNP: rs111033544
rs111033544 		1.000 0.080 6 116120324 missense variant A/C snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033545
rs111033545 		1.000 0.080 6 116120275 missense variant A/G snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033546
rs111033546 		1.000 0.080 6 116120345 missense variant A/G snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033549
rs111033549 		1.000 0.080 6 116120165 missense variant A/G snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033550
rs111033550 		1.000 0.080 6 116125441 missense variant C/T snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033551
rs111033551 		1.000 0.080 6 116125440 missense variant C/G;T snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033552
rs111033552 		0.925 0.120 6 116120105 missense variant A/G snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033553
rs111033553 		0.925 0.080 6 116120332 missense variant C/T snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033554
rs111033554 		1.000 0.080 6 116120326 missense variant T/C snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs111033555
rs111033555 		1.000 0.080 6 116120318 missense variant A/G snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1994 2005
dbSNP: rs1064583
rs1064583 		0.925 0.040 6 116125413 missense variant A/C;G snv 0.37
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs111033543
rs111033543 		1.000 0.080 6 116120232 stop gained G/C snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111033547
rs111033547 		1.000 0.080 6 116120163 stop gained C/T snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111033548
rs111033548 		0.925 0.080 6 116120220 stop gained G/T snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111033556
rs111033556 		1.000 0.080 6 116120284 stop gained C/T snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1271742789
rs1271742789 		1.000 0.080 6 116120158 missense variant T/G snv
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1562122372
rs1562122372 		1.000 0.080 6 116120257 frameshift variant GG/- delins
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1064583
rs1064583 		0.925 0.040 6 116125413 missense variant A/C;G snv 0.37
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs111033548
rs111033548 		0.925 0.080 6 116120220 stop gained G/T snv
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs111033552
rs111033552 		0.925 0.120 6 116120105 missense variant A/G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs111033553
rs111033553 		0.925 0.080 6 116120332 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1998 1998
dbSNP: rs11965969
rs11965969 		1.000 0.040 6 116131040 intron variant T/G snv 0.50
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs142463796
rs142463796 		1.000 0.040 6 116121734 missense variant C/T snv 6.8E-03 2.2E-03
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2228547
rs2228547 		1.000 0.040 6 116120483 missense variant C/A;G snv 1.2E-05; 0.14
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017