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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 15 | 48468097 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
0.925 | 0.160 | 15 | 48437837 | stop gained | C/A;G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 48437837 | stop gained | C/A;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 |