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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 47252031 | upstream gene variant | A/G | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 47290971 | synonymous variant | A/C;G;T | snv | 0.39; 4.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 47285812 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285812 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285851 | intron variant | A/T | snv | 6.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285851 | intron variant | A/T | snv | 6.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47285851 | intron variant | A/T | snv | 6.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 47299316 | stop gained | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||||
|
17 | 47299316 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
17 | 47286394 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||||
|
17 | 47286394 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 17 | 47292251 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 17 | 47300211 | intron variant | G/T | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 17 | 47300211 | intron variant | G/T | snv | 0.18 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 17 | 47252316 | upstream gene variant | G/A | snv | 0.23 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 17 | 47253717 | upstream gene variant | G/C | snv | 0.23 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 17 | 47286364 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 47284514 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 47286363 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 19 | 1990 | 2017 | ||||||
|
1.000 | 0.080 | 17 | 47310169 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 19 | 1990 | 2017 |