ROR2, receptor tyrosine kinase like orphan receptor 2, 4920
N. diseases: 250; N. variants: 20
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 | 9 | 91737463 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 2 | 2000 | 2000 | |||||||
|
9 | 91724039 | missense variant | C/T | snv | 0.72 | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 91806142 | intron variant | C/A | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 9 | 91724819 | missense variant | C/G;T | snv | 4.0E-06; 3.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.080 | 9 | 91724819 | missense variant | C/G;T | snv | 4.0E-06; 3.4E-04 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.120 | 9 | 91724990 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 9 | 91733251 | missense variant | T/A;C | snv | 1.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.080 | 9 | 91733251 | missense variant | T/A;C | snv | 1.7E-04 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.120 | 9 | 91726603 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.080 | 9 | 91724247 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 91724248 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 91724229 | stop gained | G/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 91724334 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 91737400 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 91757380 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 91724870 | missense variant | C/A;T | snv | 8.2E-06; 2.0E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 91737448 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.120 | 9 | 91726603 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 91724245 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 91726602 | frameshift variant | GCCGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 91726602 | frameshift variant | GCCGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 91724551 | frameshift variant | CTTGTAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 91724250 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 9 | 91726603 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.882 | 0.200 | 9 | 91906451 | intron variant | T/C | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |