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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.440 | 6 | 24777296 | missense variant | A/G | snv |
|
0.800 | 0 | ||||||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 |