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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 100633515 | missense variant | A/T | snv | 8.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 4 | 2001 | 2003 | |||||||
|
1.000 | 0.080 | 7 | 100641198 | missense variant | C/T | snv | 7.8E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 3 | 2001 | 2003 | ||||||
|
1.000 | 0.080 | 7 | 100626830 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 3 | 2001 | 2003 | ||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.730 | 1.000 | 3 | 2001 | 2006 | |||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 100627822 | splice acceptor variant | T/C | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
1.000 | 0.080 | 7 | 100626866 | missense variant | C/G;T | snv | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
7 | 100638579 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
7 | 100638579 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
1.000 | 0.040 | 7 | 100622306 | intron variant | G/A | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
7 | 100643148 | 3 prime UTR variant | A/T | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 100628224 | splice region variant | C/T | snv | 3.1E-03 | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
7 | 100628224 | splice region variant | C/T | snv | 3.1E-03 | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 |