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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 10404649 | missense variant | T/C;G | snv | 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 6 | 1995 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 6 | 1995 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.810 | 1.000 | 3 | 2008 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
Nervous System Diseases | 0.700 | 0 |