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 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 8 | 2000 | 2015 | ||||||
|
0.925 | 0.120 | 15 | 40729955 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2014 | 2015 | |||||||||
|
15 | 40732105 | 3 prime UTR variant | T/C | snv | 0.49 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 15 | 40729620 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 15 | 40698155 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 15 | 40729928 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 15 | 40729609 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 |