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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 19 | 855574 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 855574 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 856000 | missense variant | G/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 853019 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 853019 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 855649 | missense variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 855758 | stop gained | C/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 19 | 853288 | missense variant | T/C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 19 | 853395 | missense variant | A/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 19 | 853395 | missense variant | A/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 852965 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 855955 | splice region variant | C/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 852380 | missense variant | G/C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 19 | 855799 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 855967 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 19 | 853345 | missense variant | G/A;T | snv | 4.2E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 19 | 852882 | missense variant | C/A;T | snv | 4.5E-06; 4.5E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | |||||||
|
1.000 | 0.120 | 19 | 852906 | missense variant | G/A | snv | 4.6E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.120 | 19 | 852917 | missense variant | C/G | snv | 4.6E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 19 | 855957 | splice acceptor variant | G/A | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2002 | 2009 | |||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2002 | 2009 | |||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 |