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 | 2 | 25161179 | missense variant | G/C | snv | 2.7E-03 | 2.8E-03 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2002 | 2016 | ||||||
|
0.882 | 0.120 | 2 | 25161018 | 3 prime UTR variant | G/A | snv | 0.16 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
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 | ||||||
|
1.000 | 0.160 | 2 | 25161451 | missense variant | C/A;T | snv | 3.0E-05; 3.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1998 | 2006 | |||||||
|
1.000 | 0.080 | 2 | 25164690 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | |||||||
|
1.000 | 0.040 | 2 | 25168232 | intron variant | G/C | snv | 0.18 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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 | 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 | |||||||
|
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 | 25161629 | stop gained | G/A;C;T | snv | 6.7E-06; 1.3E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 2 | 25161623 | missense variant | C/G;T | snv | 6.7E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.040 | 2 | 25161623 | missense variant | C/G;T | snv | 6.7E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.080 | 2 | 25161178 | missense variant | C/T | snv |
|
Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | |||||||
|
1.000 | 0.160 | 2 | 25161191 | missense variant | G/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
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 | ||||||||
|
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 | ||||||||
|
0.925 | 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 | ||||||||
|
0.882 | 0.120 | 2 | 25161643 | missense variant | T/C | snv | 1.3E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.120 | 2 | 25161643 | missense variant | T/C | snv | 1.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 2 | 25161643 | missense variant | T/C | snv | 1.3E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 |