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 | 0.080 | 4 | 4862808 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 4860231 | stop gained | C/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 4 | 4862854 | stop gained | C/A;G | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 4 | 4860357 | missense variant | C/A;G;T | snv | 1.5E-04; 4.5E-06; 4.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 4859979 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 4862892 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 4 | 4862018 | intron variant | C/A | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 4862018 | intron variant | C/A | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 4 | 4863149 | 3 prime UTR variant | C/T | snv | 0.22 | 0.23 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.080 | 4 | 4863149 | 3 prime UTR variant | C/T | snv | 0.22 | 0.23 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.020 | 0.500 | 2 | 2011 | 2013 | ||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.080 | 4 | 4862836 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.800 | 1.000 | 2 | 1996 | 2002 | ||||||||
|
1.000 | 0.080 | 4 | 4860099 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.800 | 1.000 | 2 | 1996 | 2002 | ||||||||
|
0.925 | 0.080 | 4 | 4863139 | frameshift variant | -/TA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.710 | 1.000 | 2 | 1996 | 2014 | ||||||||
|
0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |