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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 2 | 20005953 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 8 | 2001 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 20006173 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 7 | 2001 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 20012423 | missense variant | C/T | snv | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 7 | 2001 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 20006152 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 7 | 2001 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 20005878 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 7 | 2001 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 20006175 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 2001 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 20005841 | missense variant | C/G | snv | 2.9E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 2001 | 2012 | ||||||
|
1.000 | 0.080 | 2 | 20005801 | missense variant | C/G;T | snv | 2.5E-05; 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 20005908 | missense variant | C/G;T | snv | 4.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 20006016 | missense variant | G/A;C;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |