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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 97691776 | missense variant | G/A | snv | 8.0E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 1997 | 1997 | ||||||
|
1.000 | 0.080 | 1 | 97883353 | stop gained | G/A | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2003 | 2014 | |||||||
|
1 | 97909892 | intron variant | A/G | snv | 0.23 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 97573759 | splice donor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 1 | 97515785 | stop gained | G/A | snv | 8.0E-06 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 97934347 | intron variant | G/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 97380021 | intron variant | T/A | snv | 0.93 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 1 | 97412512 | intron variant | C/T | snv | 0.16 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 97388977 | intron variant | C/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 97850337 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 1 | 97828139 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 1 | 97699370 | stop gained | C/A | snv | 3.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 1 | 97593304 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1 | 97743554 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 97337068 | intron variant | A/G | snv | 0.26 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 97207282 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 1 | 97933063 | intron variant | G/T | snv | 0.45 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 97856823 | non coding transcript exon variant | C/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 97938540 | intron variant | T/C | snv | 4.9E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 97938540 | intron variant | T/C | snv | 4.9E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 97183653 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 97412887 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 1 | 97357213 | intron variant | G/C | snv | 0.45 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 |