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 | 15 | 58665141 | missense variant | T/C | snv | 1.7E-04 | 1.8E-04 |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||
|
0.925 | 0.080 | 15 | 58665172 | missense variant | C/G | snv | 1.2E-03 | 1.5E-03 |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1.000 | 0.080 | 15 | 58679193 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 15 | 58611932 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 15 | 58693705 | intron variant | A/T | snv | 0.38 |
|
Mental Disorders | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
15 | 58598915 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
15 | 58590593 | 3 prime UTR variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58639141 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58708424 | intron variant | G/A | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58747033 | intron variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58717866 | intron variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58719934 | intron variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 58718763 | intron variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58731360 | intron variant | T/A | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 15 | 58730416 | intron variant | T/C | snv | 0.49 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
15 | 58711735 | intron variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58703238 | intron variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 15 | 58665156 | missense variant | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 58621471 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 58679179 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 58627796 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 15 | 58750164 | intron variant | C/A | snv | 0.57 |
|
Nervous System Diseases; Mental Disorders | 0.030 | 0.667 | 3 | 2012 | 2018 | |||||||
|
0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 |
|
Nervous System Diseases; Mental Disorders | 0.030 | 0.667 | 3 | 2012 | 2018 | |||||||
|
0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.020 | 1.000 | 2 | 2015 | 2019 |