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 | 16 | 30737415 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 8 | 2012 | 2016 | |||||||||
|
1.000 | 16 | 30737415 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 8 | 2012 | 2016 | ||||||||||
|
1.000 | 16 | 30737767 | stop gained | C/A | snv |
|
0.700 | 1.000 | 8 | 2012 | 2016 | ||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
0.700 | 1.000 | 8 | 2012 | 2016 | |||||||||
|
1.000 | 0.160 | 16 | 30714927 | intron variant | C/T | snv | 0.32 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.710 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 |