COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
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: rs869320730
rs869320730 		1.000 0.080 19 18783057 frameshift variant -/G delins
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852653
rs137852653 		1.000 0.080 19 18787644 missense variant A/G snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 12 1995 2012
dbSNP: rs137852656
rs137852656 		1.000 0.080 19 18787584 missense variant A/G snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 12 1995 2012
dbSNP: rs137852650
rs137852650 		1.000 0.080 19 18786040 missense variant C/A snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 13 1995 2012
dbSNP: rs137852652
rs137852652 		0.925 0.080 19 18787602 missense variant C/A snv
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2012
dbSNP: rs137852652
rs137852652 		0.925 0.080 19 18787602 missense variant C/A snv
CUI: C4016660
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE 		0.700 0
dbSNP: rs1555791556
rs1555791556 		0.925 0.080 19 18787500 missense variant C/A snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555791556
rs1555791556 		0.925 0.080 19 18787500 missense variant C/A snv
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs149551600
rs149551600 		1.000 0.080 19 18783128 missense variant C/G;T snv 1.2E-05
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2012
dbSNP: rs312262899
rs312262899 		1.000 0.080 19 18785063 missense variant C/G;T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852655
rs137852655 		0.925 0.080 19 18783125 missense variant C/T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 13 1995 2012
dbSNP: rs1359984033
rs1359984033 		1.000 0.080 19 18785789 missense variant C/T snv 4.0E-06
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 12 1995 2012
dbSNP: rs137852651
rs137852651 		1.000 0.080 19 18786051 missense variant C/T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 12 1995 2012
dbSNP: rs1057521130
rs1057521130 		1.000 0.080 19 18787514 missense variant C/T snv
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2012
dbSNP: rs1555791425
rs1555791425 		1.000 0.080 19 18785839 missense variant C/T snv
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2012
dbSNP: rs763887855
rs763887855 		1.000 0.080 19 18789188 missense variant C/T snv 9.7E-06
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2012
dbSNP: rs867986409
rs867986409 		0.882 0.120 19 18784246 missense variant C/T snv 8.0E-06
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs867986409
rs867986409 		0.882 0.120 19 18784246 missense variant C/T snv 8.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs867986409
rs867986409 		0.882 0.120 19 18784246 missense variant C/T snv 8.0E-06
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs137852655
rs137852655 		0.925 0.080 19 18783125 missense variant C/T snv
CUI: C4310948
Disease: PSEUDOACHONDROPLASIA, SEVERE
PSEUDOACHONDROPLASIA, SEVERE 		0.700 0
dbSNP: rs312262904
rs312262904 		1.000 0.080 19 18783126 missense variant C/T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs557483957
rs557483957 		1.000 0.080 19 18788654 missense variant G/A snv 2.4E-04 2.4E-04
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 12 1995 2012
dbSNP: rs312262903
rs312262903 		1.000 0.080 19 18785755 missense variant G/A snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs142274526
rs142274526 		1.000 0.080 19 18787572 missense variant G/A;C snv 2.8E-05; 4.0E-06
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs312262900
rs312262900 		1.000 0.080 19 18785056 missense variant G/A;C;T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0