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 | 104831027 | missense variant | T/A;C | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.120 | 9 | 104806276 | missense variant | A/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 104822514 | missense variant | G/A | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 104804668 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 104814154 | missense variant | C/T | snv | 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 104786940 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | |||||||
|
0.882 | 0.160 | 9 | 104822520 | missense variant | T/C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 104822521 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2013 | ||||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 12 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
9 | 104903458 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||||
|
9 | 104903458 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2018 | ||||||||||
|
0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
0.925 | 0.080 | 9 | 104894789 | intron variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 104832083 | intron variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
9 | 104884738 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
9 | 104903458 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
Eye Diseases | 0.740 | 0.600 | 5 | 2011 | 2018 | |||||||
|
1.000 | 0.120 | 9 | 104831048 | missense variant | C/A;G | snv | 5.6E-05; 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.720 | 1.000 | 22 | 1999 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 104798504 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 20 | 1999 | 2013 |