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 | 0.120 | 2 | 174824485 | missense variant | A/G | snv |
|
Digestive System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 174824485 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 174824485 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 174824485 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 174877967 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 174812441 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 |