| 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 | 0.080 | 4 | 99618993 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1996 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 99594764 | missense variant | G/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1996 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 99608790 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1996 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 99608826 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1996 | 2015 | ||||||
|
1.000 | 0.080 | 4 | 99622756 | stop gained | G/T | snv | 1.2E-04 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1995 | 2007 | ||||||
|
1.000 | 0.080 | 4 | 99608827 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 3 | 1996 | 2013 | ||||||
|
1.000 | 0.080 | 4 | 99619094 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 3 | 2000 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 99608977 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 3 | 2003 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 99613134 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1995 | 2008 | ||||||||
|
1.000 | 0.040 | 4 | 99583828 | 3 prime UTR variant | G/A | snv | 0.60 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 4 | 99583404 | missense variant | C/A | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 4 | 99583431 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 4 | 99601674 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 99574424 | intron variant | A/T | snv | 0.43 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 99574660 | intron variant | T/C | snv | 0.26 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 4 | 99583418 | missense variant | G/C;T | snv | 5.9E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 99586478 | intron variant | C/T | snv | 1.3E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 4 | 99583409 | missense variant | G/C | snv | 4.0E-02 | 4.9E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 4 | 99591235 | missense variant | G/A | snv | 1.0E-02 | 7.8E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.080 | 4 | 99611192 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 4 | 99581913 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 4 | 99597206 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1.000 | 0.040 | 4 | 99581967 | missense variant | G/A | snv | 3.4E-04 | 8.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 4 | 99591691 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 4 | 99591735 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |