TAF1, TATA-box binding protein associated factor 1, 6872
N. diseases: 139; N. variants: 9
Source: ALL
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 | 0.160 | X | 71377774 | missense variant | G/A | snv | 1.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | X | 71401691 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | X | 71387393 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | X | 71398627 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | X | 71382821 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | X | 71392653 | missense variant | G/C | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | X | 71407993 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
Digestive System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 71529785 | 3 prime UTR variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |