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 | 0.040 | 22 | 37983469 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983644 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37978112 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37973789 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37973800 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37973806 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37973961 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983359 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983404 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983421 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983484 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983485 | frameshift variant | GCT/CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983510 | frameshift variant | -/GGGCATGGGCACCAGCGTCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 37983658 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |