MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
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: rs104893645
rs104893645 		0.925 0.080 2 20005953 missense variant A/T snv
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 8 2001 2019
dbSNP: rs104893637
rs104893637 		1.000 0.080 2 20006173 missense variant G/A snv
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 7 2001 2012
dbSNP: rs104893640
rs104893640 		1.000 0.080 2 20012423 missense variant C/T snv 1.2E-04
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 7 2001 2012
dbSNP: rs104893641
rs104893641 		1.000 0.080 2 20006152 missense variant C/G snv
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 7 2001 2012
dbSNP: rs28939677
rs28939677 		1.000 0.080 2 20005878 missense variant G/T snv
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 7 2001 2012
dbSNP: rs397515546
rs397515546 		1.000 0.080 2 20006175 missense variant G/A snv
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 7 2001 2012
dbSNP: rs773642745
rs773642745 		1.000 0.080 2 20005841 missense variant C/G snv 2.9E-05 3.5E-05
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 7 2001 2012
dbSNP: rs104893639
rs104893639 		1.000 0.080 2 20003167 missense variant A/T snv
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2004 2004
dbSNP: rs52826764
rs52826764 		2 20005780 missense variant C/T snv 2.3E-02 1.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs182164052
rs182164052 		1.000 0.080 2 20005801 missense variant C/G;T snv 2.5E-05; 4.9E-05
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs749845872
rs749845872 		1.000 0.080 2 20005908 missense variant C/G;T snv 4.2E-06
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs779413744
rs779413744 		1.000 0.080 2 20006016 missense variant G/A;C;T snv 4.0E-05
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs77245812
rs77245812 		0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.020 1.000 2 2006 2011
dbSNP: rs104893645
rs104893645 		0.925 0.080 2 20005953 missense variant A/T snv
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs77245812
rs77245812 		0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs77245812
rs77245812 		0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011