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 | 8 | 31090843 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.720 | 1.000 | 2 | 2000 | 2007 | ||||||||
|
1.000 | 0.080 | 8 | 31132498 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 2 | 2006 | 2012 | ||||||
|
0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 1996 | 2015 | ||||||
|
1.000 | 0.080 | 8 | 31141680 | splice acceptor variant | G/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 1996 | 2006 | |||||||
|
8 | 31162081 | intron variant | C/T | snv | 0.55 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.080 | 8 | 31157461 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1996 | 1997 | ||||||
|
1.000 | 0.080 | 8 | 31065058 | frameshift variant | AA/- | delins | 6.4E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1997 | 2008 | ||||||
|
1.000 | 0.040 | 8 | 31112462 | intron variant | C/T | snv | 3.5E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 31116295 | intron variant | C/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 8 | 31119144 | intron variant | T/C | snv | 0.16 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 31141162 | intron variant | C/T | snv | 2.8E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
8 | 31147066 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.080 | 8 | 31142702 | splice donor variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 8 | 31111628 | frameshift variant | AC/- | delins | 4.0E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.040 | 8 | 31108447 | intron variant | C/T | snv | 0.82 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 8 | 31111720 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1.000 | 0.080 | 8 | 31068326 | splice donor variant | GGTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 8 | 31085164 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 8 | 31141776 | splice donor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
8 | 31158766 | intron variant | A/G | snv | 0.62 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
8 | 31067041 | synonymous variant | C/T | snv | 0.71 | 0.67 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 31116441 | synonymous variant | G/T | snv | 0.45 | 0.44 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 8 | 31135859 | intron variant | C/T | snv | 0.47 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 8 | 31064962 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 31120201 | non coding transcript exon variant | T/C | snv | 0.46 | 0.45 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |