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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 40972109 | intron variant | A/G | snv | 2.8E-02 | 3.1E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 5 | 40959520 | missense variant | C/A;T | snv | 2.3E-03; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 40959520 | missense variant | C/A;T | snv | 2.3E-03; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.800 | 1.000 | 3 | 1996 | 1998 | |||||||
|
1.000 | 0.080 | 5 | 40955428 | missense variant | G/A;C;T | snv | 1.6E-05; 1.3E-04; 5.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.800 | 1.000 | 3 | 1996 | 1998 | |||||||
|
1.000 | 0.080 | 5 | 40972564 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 1.000 | 3 | 1996 | 1998 | ||||||||
|
1.000 | 0.080 | 5 | 40936337 | splice acceptor variant | G/T | snv | 1.2E-04 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.080 | 5 | 40972580 | missense variant | G/A;T | snv | 3.9E-04; 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 5 | 40958230 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 40945289 | missense variant | G/A | snv | 1.4E-04 | 1.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 5 | 40979743 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 40955459 | missense variant | G/C | snv | 0.58 | 0.52 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.120 | 5 | 40955459 | missense variant | G/C | snv | 0.58 | 0.52 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 5 | 40955428 | missense variant | G/A;C;T | snv | 1.6E-05; 1.3E-04; 5.3E-05 |
|
Infections | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
5 | 40938240 | intron variant | T/C | snv | 0.48 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 |