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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 2 | 219421365 | missense variant | G/A;C | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 219418463 | start lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219418856 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 219425706 | frameshift variant | ACGG/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 219418955 | protein altering variant | CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 219418827 | missense variant | A/G;T | snv | 5.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 219421359 | missense variant | A/C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 219418792 | inframe deletion | GCAGGAGCT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219421467 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 219418976 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 219425720 | missense variant | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 219418842 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 |