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 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 8 | 116847532 | missense variant | C/T | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 8 | 116847588 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 8 | 116847643 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 8 | 116848536 | intron variant | C/T | snv | 1.6E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 8 | 116850687 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 |