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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 68794860 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 68794860 | missense variant | C/G;T | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 68794860 | missense variant | C/G;T | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 68756585 | 3 prime UTR variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 68754585 | upstream gene variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 68824581 | intron variant | T/C | snv | 1.1E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 68830586 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 68830586 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 68830586 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 68830586 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.776 | 0.320 | 11 | 68780662 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 11 | 68780662 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 9 | 1998 | 2011 | ||||||
|
0.925 | 0.160 | 11 | 68760238 | missense variant | C/T | snv | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 9 | 1998 | 2004 | |||||||
|
1.000 | 0.080 | 11 | 68760241 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 68807553 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 8 | 1998 | 2004 | ||||||
|
1.000 | 0.080 | 11 | 68793341 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 68784909 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||
|
1.000 | 0.080 | 11 | 68780737 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 68784951 | missense variant | A/C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||||
|
1.000 | 0.080 | 11 | 68780705 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 68784899 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 68793370 | missense variant | G/A;C | snv | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||||
|
1.000 | 0.080 | 11 | 68781882 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 68775398 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 8 | 1998 | 2004 | |||||||
|
1.000 | 0.080 | 11 | 68780647 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 1998 | 2004 |