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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Infections; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 117592160 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117536639 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117540180 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117559587 | inframe deletion | ATC/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117592213 | frameshift variant | AA/-;A;AAA;AAAA | delins | 7.7E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117590440 | splice donor variant | G/A;C;T | snv | 3.2E-05; 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509092 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117535285 | missense variant | T/G | snv | 1.9E-04 | 1.3E-04 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117535285 | missense variant | T/G | snv | 1.9E-04 | 1.3E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117540285 | missense variant | G/A | snv | 2.4E-05 |
|
Digestive System Diseases | 0.700 | 0 |