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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
Nutritional and Metabolic Diseases | 0.740 | 1.000 | 4 | 2006 | 2012 | |||||||
|
0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.720 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 |
|
Hemic and Lymphatic Diseases | 0.720 | 1.000 | 2 | 2004 | 2014 | |||||||
|
0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 |
|
Nutritional and Metabolic Diseases | 0.710 | 1.000 | 16 | 1998 | 2016 | |||||||
|
0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 15 | 2000 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 89955538 | frameshift variant | G/- | delins | 2.4E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1998 | 2015 | ||||||
|
1.000 | 0.040 | 8 | 89971174 | frameshift variant | TTTG/- | delins | 2.0E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 1998 | 2017 | ||||||
|
1.000 | 0.040 | 8 | 89955538 | frameshift variant | G/- | delins | 2.4E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 1998 | 2015 | ||||||
|
1.000 | 0.040 | 8 | 89937024 | splice donor variant | A/C | snv | 8.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2004 | 2010 | ||||||
|
1.000 | 0.040 | 8 | 89982766 | stop gained | G/A | snv | 3.2E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2014 | 2017 | ||||||
|
1.000 | 0.040 | 8 | 89943296 | frameshift variant | CGAGCATGATGAGCTATTAGATC/- | del |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 8 | 89971174 | frameshift variant | TTTG/- | delins | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2017 | ||||||
|
1.000 | 0.040 | 8 | 89982766 | stop gained | G/A | snv | 3.2E-05 | 6.3E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2014 | 2016 | ||||||
|
0.882 | 0.120 | 8 | 89943320 | stop gained | G/C | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||||
|
1.000 | 0.040 | 8 | 89970451 | frameshift variant | AC/- | delins | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2014 | 2016 | |||||||
|
1.000 | 0.040 | 8 | 89970517 | frameshift variant | -/CC | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1986 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 89958856 | splice acceptor variant | T/C;G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1998 | 2015 | |||||||
|
1.000 | 0.040 | 8 | 89946138 | splice donor variant | A/- | del | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 | |||||||
|
1.000 | 0.040 | 8 | 89971172 | splice donor variant | C/A;G;T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 89937076 | splice acceptor variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 89958760 | stop gained | G/A;T | snv | 5.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2004 | 2005 | |||||||
|
1.000 | 0.040 | 8 | 89971291 | splice acceptor variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 89958723 | splice donor variant | A/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 89937022 | splice donor variant | TACCTAAAAAGAT/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 89964407 | splice region variant | CTGTAC/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 2006 |