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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 16 | 173598 | stop lost | T/A;C;G | snv | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 7 | 1971 | 2010 | |||||||
|
0.925 | 0.080 | 16 | 172955 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1984 | 1984 | ||||||||
|
0.925 | 0.080 | 16 | 172955 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1984 | 1984 | ||||||||
|
16 | 172976 | missense variant | G/C;T | snv | 1.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
16 | 173244 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||||||||
|
0.925 | 0.080 | 16 | 173246 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1979 | 1979 | ||||||||
|
0.925 | 0.080 | 16 | 173246 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1979 | 1979 | ||||||||
|
0.925 | 0.080 | 16 | 173001 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||||||
|
16 | 172991 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 16 | 173500 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1990 | 1990 | ||||||||
|
0.925 | 0.080 | 16 | 173500 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1990 | 1990 | ||||||||
|
1.000 | 0.080 | 16 | 173565 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||||||
|
1.000 | 0.080 | 16 | 173236 | missense variant | C/A;G;R | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 172914 | start lost | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
16 | 173125 | missense variant | G/C;T;Y | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 16 | 172913 | start lost | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 172982 | stop gained | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 16 | 173151 | missense variant | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 173295 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 173215 | missense variant | G/C;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 173520 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 173207 | missense variant | G/A;C | snv | 3.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 16 | 173001 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 16 | 173589 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 173548 | missense variant | T/A;C;G | snv | 5.6E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 |