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 | 22 | 18923820 | non coding transcript exon variant | C/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 22 | 18923820 | non coding transcript exon variant | C/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 22 | 18922389 | missense variant | A/T | snv | 3.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2002 | 2007 | |||||||
|
1.000 | 0.080 | 22 | 18916953 | missense variant | T/C | snv | 2.7E-03 | 1.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 22 | 18918380 | missense variant | C/A | snv | 9.4E-04 | 1.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.080 | 22 | 18913492 | missense variant | G/A;C;T | snv | 1.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 22 | 18918464 | missense variant | C/T | snv | 3.8E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 22 | 18918464 | missense variant | C/T | snv | 3.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 22 | 18918464 | missense variant | C/T | snv | 3.8E-02 |
|
0.700 | 0 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.882 | 0.120 | 22 | 18918329 | missense variant | C/T | snv | 4.9E-02; 4.0E-06 | 5.5E-02 |
|
Mental Disorders | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.120 | 22 | 18918329 | missense variant | C/T | snv | 4.9E-02; 4.0E-06 | 5.5E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.120 | 22 | 18918329 | missense variant | C/T | snv | 4.9E-02; 4.0E-06 | 5.5E-02 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 22 | 18918346 | missense variant | G/A | snv | 4.6E-03 | 3.3E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 22 | 18918346 | missense variant | G/A | snv | 4.6E-03 | 3.3E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 4 | 2002 | 2018 | ||||||
|
0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 |
|
0.700 | 1.000 | 2 | 2002 | 2005 | |||||||
|
0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2002 | 2005 | ||||||
|
0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 |