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 | 0.040 | 19 | 855799 | splice region variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 1999 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 855795 | splice donor variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1999 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 855795 | splice donor variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1999 | 2013 | ||||||||
|
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 | ||||||||
|
0.925 | 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 | |||||||||||
|
0.925 | 0.040 | 19 | 855799 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 852978 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 853338 | missense variant | G/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
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 | 0.040 | 19 | 855974 | missense variant | C/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 855588 | missense variant | G/A;T | snv | 1.3E-05 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | |||||||
|
1.000 | 0.040 | 19 | 855693 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||
|
1.000 | 0.040 | 19 | 853020 | missense variant | G/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 852948 | missense variant | T/C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 855978 | missense variant | G/T | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 5 | 1999 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 855625 | missense variant | G/A;T | snv | 1.7E-04 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1999 | 2013 | |||||||
|
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 | 0.120 | 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 | 0.040 | 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 | |||||||||||
|
1.000 | 0.040 | 19 | 852965 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
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 |