| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 34289364 | intron variant | G/A | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.240 | 20 | 34295469 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.240 | 20 | 34294119 | missense variant | T/C | snv | 4.0E-05 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.080 | 20 | 34260386 | synonymous variant | C/G;T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 20 | 34292375 | missense variant | T/C | snv | 8.0E-05 | 9.1E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2016 | |||||||
|
20 | 34311868 | upstream gene variant | G/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34310533 | intron variant | G/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34289960 | intron variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34258230 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 34244325 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34266771 | intron variant | A/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34256724 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34282508 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 34260913 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34273201 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 34273750 | intron variant | T/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34274021 | intron variant | T/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34303394 | intron variant | G/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34301898 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 34300731 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34293217 | intron variant | A/C | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34292932 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 34291914 | intron variant | A/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34264476 | intron variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34254551 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 |