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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 |
|
Male Urogenital Diseases | 0.800 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117548758 | missense variant | G/T | snv | 2.6E-04 | 3.3E-04 |
|
Male Urogenital Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.040 | 7 | 117590400 | missense variant | G/C;T | snv | 5.1E-03; 4.0E-06 |
|
Male Urogenital Diseases | 0.800 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117611646 | missense variant | G/A | snv | 2.6E-04 | 2.4E-04 |
|
Male Urogenital Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.120 | 7 | 117592659 | splice donor variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 117592596 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117540116 | frameshift variant | -/TC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117610522 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117664711 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117664711 | frameshift variant | CA/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117627586 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117536546 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117627548 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117603725 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117592649 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117642569 | frameshift variant | -/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
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; Respiratory Tract Diseases; Cardiovascular 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 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases; Immune 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 | 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; Infections; Respiratory Tract Diseases | 0.700 | 0 |