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: 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: 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: 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: 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: rs137852654
rs137852654 		1.000 0.080 19 18785772 missense variant G/C;T snv
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 9 1995 2012
dbSNP: rs28936368
rs28936368 		0.882 0.080 19 18783129 missense variant G/A;T snv 8.6E-04
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 9 1995 2012
dbSNP: rs312262901
rs312262901 		1.000 0.080 19 18785050 missense variant T/C snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2004 2004
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: 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: 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: 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: 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: 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: rs1568554988
rs1568554988 		1.000 0.080 19 18786281 missense variant T/G 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 3 1995 2016
dbSNP: rs1311845746
rs1311845746 		1.000 0.080 19 18788450 missense variant G/C snv 4.2E-06
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: rs137852655
rs137852655 		0.925 0.080 19 18783125 missense variant C/T snv
CUI: C4310948
Disease: PSEUDOACHONDROPLASIA, SEVERE
PSEUDOACHONDROPLASIA, 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: rs193922900
rs193922900 		0.925 0.080 19 18786035 inframe insertion TCG/-;TCGTCG;TCGTCGTCG delins
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922900
rs193922900 		0.925 0.080 19 18786035 inframe insertion TCG/-;TCGTCG;TCGTCGTCG 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: rs28936668
rs28936668 		0.925 0.080 19 18786096 missense variant T/C 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: rs28936668
rs28936668 		0.925 0.080 19 18786096 missense variant T/C snv
CUI: C4016660
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE 		0.700 0