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 | 0.080 | 12 | 88102888 | stop gained | G/A | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 12 | 88058846 | splice region variant | -/CC | delins |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.200 | 12 | 88060951 | missense variant | A/G | snv | 7.6E-03 | 5.1E-03 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 12 | 88083083 | stop gained | G/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 12 | 88120162 | stop gained | T/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 12 | 88120162 | stop gained | T/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 12 | 88120162 | stop gained | T/A | snv | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |