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 | 17 | 47310169 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 19 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 47291027 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 19 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 47286364 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 47284514 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 47286363 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | ||||||
|
1.000 | 0.080 | 17 | 47284509 | missense variant | T/G | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 47287128 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | ||||||
|
1.000 | 0.080 | 17 | 47307581 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 2 | 2008 | 2018 | |||||||
|
1.000 | 0.080 | 17 | 47286385 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 47284644 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 19 | 1990 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 47299430 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 19 | 1990 | 2017 | ||||||
|
1.000 | 0.080 | 17 | 47286370 | missense variant | G/A | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 19 | 1990 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 47283379 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 19 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 47299418 | missense variant | T/A;C | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 19 | 1990 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 47283543 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 19 | 1990 | 2017 | ||||||
|
17 | 47252031 | upstream gene variant | A/G | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 47285812 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285812 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285851 | intron variant | A/T | snv | 6.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285851 | intron variant | A/T | snv | 6.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |