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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 3 | 124734175 | intron variant | T/G | snv | 0.10 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2006 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 124735222 | missense variant | A/G | snv | 2.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||
|
1.000 | 0.080 | 3 | 124743926 | missense variant | G/C | snv | 5.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||
|
1.000 | 0.080 | 3 | 124737583 | stop lost | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.120 | 3 | 124731234 | intron variant | G/A;C | snv | 0.10 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 3 | 124731234 | intron variant | G/A;C | snv | 0.10 |
|
Nervous System Diseases; Wounds and Injuries | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 124748400 | 3 prime UTR variant | C/A;G | snv | 0.33; 3.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 3 | 124737583 | stop lost | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
3 | 124740164 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 |