DDR2, discoidin domain receptor tyrosine kinase 2, 4921
N. diseases: 147; N. variants: 24
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 1 | 162776341 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 1 | 162776225 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.810 | 1.000 | 3 | 2009 | 2016 | |||||||
|
1.000 | 0.120 | 1 | 162754775 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 1 | 162776264 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 162775707 | missense variant | A/G;T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 162778617 | missense variant | G/T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1 | 162691673 | intron variant | A/G | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 1 | 162702221 | intron variant | T/C | snv | 0.12 |
|
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 162778235 | intron variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 162756491 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 162762701 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 162721669 | intron variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 162759881 | missense variant | G/A;T | snv | 8.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 162759840 | missense variant | T/C;G | snv | 2.8E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 162688983 | intron variant | C/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 162634091 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 162639948 | intron variant | A/G | snv | 4.6E-02 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.040 | 1 | 162773569 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 1 | 162773569 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 162773569 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 162776306 | missense variant | A/G | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 162776306 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 162772032 | missense variant | G/A | snv | 7.8E-04 | 2.9E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 |