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 | 0.080 | 2 | 25161630 | missense variant | G/C | snv | 8.6E-05 | 4.7E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 2 | 25164664 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 2 | 25161145 | frameshift variant | T/- | del | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 2 | 25161145 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
1.000 | 0.040 | 2 | 25168232 | intron variant | G/C | snv | 0.18 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 25170385 | upstream gene variant | C/T | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 25161964 | intron variant | T/C | snv | 0.36 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 25161588 | inframe insertion | CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | delins | 3.9E-05 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.925 | 2 | 25161329 | missense variant | G/A | snv | 8.8E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 2 | 25164312 | intron variant | T/G | snv | 0.24 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 2 | 25161018 | 3 prime UTR variant | G/A | snv | 0.16 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 2 | 25161018 | 3 prime UTR variant | G/A | snv | 0.16 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 25161441 | missense variant | C/G | snv | 4.2E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 25161526 | missense variant | C/A;T | snv | 5.1E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 2 | 25161455 | missense variant | A/G | snv | 1.8E-04 | 1.6E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||||
|
0.882 | 0.200 | 2 | 25161718 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.200 | 2 | 25161718 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |