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 | 19 | 41869042 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 8 | 1999 | 2008 | ||||||||
|
1.000 | 0.080 | 19 | 41869722 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 8 | 1999 | 2008 | ||||||||
|
1.000 | 0.080 | 19 | 41860817 | missense variant | G/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1999 | 2008 | |||||||
|
1.000 | 0.080 | 19 | 41861204 | missense variant | C/T | snv | 2.5E-04 | 3.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1999 | 2008 | ||||||
|
0.925 | 0.080 | 19 | 41869043 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1999 | 2008 | ||||||||
|
1.000 | 0.080 | 19 | 41860823 | missense variant | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1999 | 2008 | |||||||
|
1.000 | 0.080 | 19 | 41869725 | frameshift variant | AA/-;A;AAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 19 | 41861138 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869724 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869108 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 41869043 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869150 | frameshift variant | -/TG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869217 | splice region variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869708 | frameshift variant | -/CT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869138 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41869163 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 41869042 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 41860777 | start lost | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 19 | 41869159 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 19 | 41869159 | missense variant | C/T | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |