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 | 0.080 | 4 | 1803725 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 0 | |||||||||||
|
0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.800 | 0 | ||||||||||
|
0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv |
|
Neoplasms | 0.800 | 0 | |||||||||||
|
0.882 | 0.080 | 4 | 1807260 | stop lost | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 4 | 1807262 | stop gained | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 1801930 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 4 | 1801930 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 4 | 1801928 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.700 | 0 |