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 | 156830120 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 156879203 | synonymous variant | C/T | snv | 0.58 | 0.54 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1 | 156843858 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 1 | 156881535 | missense variant | G/A;C | snv | 3.5E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | |||||||||
|
1.000 | 1 | 156868557 | synonymous variant | C/T | snv | 1.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.120 | 1 | 156879126 | missense variant | C/T | snv | 4.2E-02 | 3.7E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.080 | 1 | 156880056 | missense variant | C/T | snv | 6.0E-05 | 7.6E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 156866944 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||||
|
1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 156871656 | synonymous variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 1 | 156864760 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 2.1E-05 |
|
Neoplasms | 0.700 | 0 | |||||||||
|
0.827 | 0.120 | 1 | 156879126 | missense variant | C/T | snv | 4.2E-02 | 3.7E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 1 | 156881535 | missense variant | G/A;C | snv | 3.5E-05 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 1 | 156815190 | missense variant | T/C | snv | 0.64 | 0.57 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 1 | 156868246 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
1.000 | 1 | 156881446 | intron variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 156876514 | missense variant | C/G;T | snv | 6.4E-05; 2.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 156876508 | missense variant | G/A | snv | 1.4E-04 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 156876418 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 1 | 156815190 | missense variant | T/C | snv | 0.64 | 0.57 |
|
Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 1 | 156876496 | missense variant | G/A;C | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 14 | 1996 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 156880036 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156873858 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 |