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 | 1 | 156860987 | missense variant | G/A | snv | 7.5E-03 | 9.4E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 1 | 156881499 | missense variant | C/T | snv | 1.4E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1.000 | 1 | 156868246 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
1.000 | 1 | 156868246 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 156843858 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 1 | 156876496 | missense variant | G/A;C | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 14 | 1996 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 156880036 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156873858 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156876526 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1 | 156830120 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 1 | 156868557 | synonymous variant | C/T | snv | 1.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 1 | 156881562 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1996 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 156876426 | frameshift variant | T/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156875639 | missense variant | G/A | snv | 4.5E-04 | 3.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1996 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 156879363 | splice donor variant | G/T | snv | 8.3E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1 | 156876508 | missense variant | G/A | snv | 1.4E-04 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 1 | 156881446 | intron variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
1.000 | 1 | 156881446 | intron variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
1.000 | 0.080 | 1 | 156874568 | splice acceptor variant | CAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 156874963 | frameshift variant | -/TTGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |