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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 27391504 | intron variant | T/C | snv | 0.26 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 3 | 27391504 | intron variant | T/C | snv | 0.26 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 27481209 | intron variant | T/C | snv | 0.28 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 27481209 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 27404794 | intron variant | T/A | snv | 0.21 | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 27404794 | intron variant | T/A | snv | 0.21 | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 27449048 | intron variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 3 | 27468223 | intron variant | G/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 27415717 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 3 | 27433860 | intron variant | G/A | snv | 0.13 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 17 | 2009 | 2019 | |||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 15 | 2009 | 2019 | |||||||
|
1.000 | 0.160 | 3 | 27390094 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 27431445 | missense variant | C/T | snv | 0.20 | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 3 | 27485025 | upstream gene variant | C/T | snv | 0.38 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 3 | 27485025 | upstream gene variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 27439550 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 27439550 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |