TRIO, trio Rho guanine nucleotide exchange factor, 7204
N. diseases: 143; N. variants: 20
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 | 5 | 14394102 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 14397112 | missense variant | C/A | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 14374251 | missense variant | A/T | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 14359442 | stop gained | C/T | snv |
|
0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||||
|
1.000 | 5 | 14359442 | stop gained | C/T | snv |
|
0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||||
|
1.000 | 5 | 14359442 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 9 | 1996 | 2017 | |||||||||
|
1.000 | 5 | 14359499 | stop gained | C/T | snv |
|
0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||||
|
1.000 | 5 | 14369426 | stop gained | G/A | snv |
|
0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||||
|
1.000 | 5 | 14498161 | missense variant | G/A | snv | 3.2E-05 | 4.9E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
1.000 | 5 | 14482717 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 14488019 | missense variant | C/T | snv | 1.5E-03 | 7.4E-03 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 5 | 14486198 | intron variant | A/G | snv | 2.2E-03 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 14317895 | intron variant | G/T | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 5 | 14485152 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 14374244 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 14374244 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 5 | 14387579 | missense variant | T/C | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 5 | 14390300 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 14387619 | frameshift variant | A/- | del |
|
0.700 | 0 |