| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 1 | 156137203 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.820 | 1.000 | 13 | 2003 | 2013 | ||||||
|
0.827 | 0.200 | 1 | 156130693 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.820 | 1.000 | 3 | 2003 | 2017 | ||||||||
|
0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.790 | 0.917 | 12 | 2003 | 2018 | |||||||
|
0.851 | 0.240 | 1 | 156130688 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.730 | 1.000 | 12 | 2003 | 2015 | ||||||||
|
0.851 | 0.120 | 1 | 156138657 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.720 | 1.000 | 3 | 2004 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 156137664 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 2 | 2006 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 156138610 | splice region variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.160 | 1 | 156137671 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.280 | 1 | 156137207 | missense variant | C/A;G;T | snv | 9.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 156130672 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 10 | 2003 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 156135275 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 10 | 2003 | 2013 | ||||||||
|
0.925 | 0.160 | 1 | 156138758 | splice donor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 1 | 156138483 | splice donor variant | GCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 1 | 156138611 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.160 | 1 | 156134832 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 156138560 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 156138757 | splice region variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 156138762 | splice region variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 156138759 | splice donor variant | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 1 | 156136951 | missense variant | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 1 | 156135268 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |