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 | 0.040 | 12 | 104321282 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 12 | 104321282 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.080 | 12 | 104315822 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 12 | 104215828 | missense variant | T/C | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.160 | 12 | 104215828 | missense variant | T/C | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.160 | 12 | 104215828 | missense variant | T/C | snv | 1.4E-05 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 12 | 104319585 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 12 | 104337068 | intron variant | C/T | snv | 0.29 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 12 | 104337068 | intron variant | C/T | snv | 0.29 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 12 | 104333966 | intron variant | G/C | snv | 0.93 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 12 | 104313402 | intron variant | A/T | snv | 0.93 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 12 | 104325362 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1991 | 1991 | ||||||||
|
1.000 | 0.200 | 12 | 104321122 | missense variant | G/A | 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 | 1992 | 1992 | ||||||||
|
0.925 | 0.040 | 12 | 104318981 | stop gained | C/G;T | snv | 2.0E-05; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 12 | 104318981 | stop gained | C/G;T | snv | 2.0E-05; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.200 | 12 | 104339166 | missense variant | G/A | snv | 4.0E-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 | 1992 | 1992 | |||||||
|
0.925 | 0.200 | 12 | 104348386 | missense variant | G/A | snv | 4.0E-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 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.200 | 12 | 104348386 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 12 | 104327604 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 |