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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 2 | 58161533 | inframe deletion | ATA/- | del | 3.3E-04 |
|
0.700 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 2 | 58160148 | frameshift variant | CT/-;CTCT | delins | 7.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2003 | 2014 | |||||||
|
0.925 | 0.120 | 2 | 58161533 | inframe deletion | ATA/- | del | 3.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2009 | 2016 | |||||||
|
1.000 | 0.120 | 2 | 58229813 | splice donor variant | C/A | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1.000 | 0.120 | 2 | 58226727 | splice donor variant | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1.000 | 0.120 | 2 | 58160103 | splice region variant | CTTAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 0.120 | 2 | 58163519 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 2 | 58218738 | intron variant | A/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 2 | 58218738 | intron variant | A/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 2 | 58218738 | intron variant | A/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 2 | 58218738 | intron variant | A/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 2 | 58218738 | intron variant | A/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 2 | 58163447 | frameshift variant | AGAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 58229819 | stop gained | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 2 | 58159793 | splice acceptor variant | -/AATT | delins | 3.0E-03 | 3.0E-03 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 58241274 | frameshift variant | G/-;GG | delins | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 2 | 58226733 | frameshift variant | G/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 58204171 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 2 | 58204163 | frameshift variant | ACCAGAAGCATCT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 58159865 | 3 prime UTR variant | C/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 2 | 58241304 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.120 | 2 | 58241304 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |