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 | 0.040 | 9 | 121289122 | intron variant | A/G | snv | 0.70 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 121267901 | intron variant | T/C | snv | 0.37 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 121321670 | intron variant | A/G | snv | 6.2E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121321193 | intron variant | C/T | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121325962 | intron variant | A/G | snv | 3.6E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121330593 | intron variant | T/C | snv | 7.5E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121326895 | intron variant | C/T | snv | 0.81 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121326453 | intron variant | A/G | snv | 5.6E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121314538 | intron variant | C/T | snv | 0.83 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 121328506 | intron variant | G/A;C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 121330077 | intron variant | C/T | snv | 0.25 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 121246736 | intron variant | C/T | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.060 | 1.000 | 6 | 1991 | 2018 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.050 | 1.000 | 5 | 1991 | 2017 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases | 0.040 | 1.000 | 4 | 1995 | 2011 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 1992 | 2018 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases | 0.800 | 1.000 | 2 | 1990 | 1992 | |||||||
|
0.851 | 0.240 | 9 | 121302059 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 9 | 121312342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 9 | 121302985 | missense variant | C/T | snv | 3.1E-04 | 4.0E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1.000 | 0.080 | 9 | 121302985 | missense variant | C/T | snv | 3.1E-04 | 4.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1.000 | 0.080 | 9 | 121302147 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |