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 | 17 | 44005808 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | 17 | 44005709 | missense variant | A/G | snv | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2003 | 2016 | |||||||
|
17 | 43952508 | downstream gene variant | C/T | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 17 | 44006157 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 44006113 | missense variant | C/T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 44004765 | frameshift variant | -/AGATCGGAAGA | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 44005780 | stop gained | G/A;T | snv | 9.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 17 | 43953163 | missense variant | G/C | snv | 0.63 | 0.59 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.925 | 0.120 | 17 | 43953163 | missense variant | G/C | snv | 0.63 | 0.59 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
17 | 43953174 | synonymous variant | G/A | snv | 7.0E-06 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 17 | 43953041 | 3 prime UTR variant | G/A | snv | 0.23 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 17 | 43952807 | 3 prime UTR variant | G/C;T | snv | 9.2E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 17 | 43953963 | 5 prime UTR variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 17 | 43953299 | missense variant | T/C;G | snv | 8.2E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 17 | 43953160 | missense variant | A/G | snv | 7.8E-03 | 3.2E-02 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |