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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 35230278 | 5 prime UTR variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 35229973 | intron variant | C/A;G | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.080 | 5 | 35185478 | intron variant | C/T | snv | 0.32 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 35185478 | intron variant | C/T | snv | 0.32 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 35185724 | intron variant | C/T | snv | 0.31 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 35185724 | intron variant | C/T | snv | 0.31 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 35089198 | intron variant | G/A | snv | 0.27 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 35089198 | intron variant | G/A | snv | 0.27 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 5 | 35072278 | intron variant | T/G | snv | 0.34 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 5 | 35072278 | intron variant | T/G | snv | 0.34 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 5 | 35070174 | missense variant | T/C | snv |
|
Nervous System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 5 | 35070174 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 5 | 35200934 | intron variant | A/G | snv | 0.27 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 35200934 | intron variant | A/G | snv | 0.27 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 5 | 35065526 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 5 | 35065411 | missense variant | T/A;C | snv | 9.0E-04; 4.0E-06 |
|
Neoplasms; Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 5 | 35065789 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 35085078 | intron variant | G/A;C;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 5 | 35072610 | missense variant | T/G | snv | 1.9E-02 | 1.9E-02 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 5 | 35072610 | missense variant | T/G | snv | 1.9E-02 | 1.9E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 5 | 35072607 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Nervous System Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 5 | 35068265 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 |
|
Nervous System Diseases; Endocrine System Diseases | 0.700 | 0 |