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 | 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 | |||||||
|
0.925 | 0.120 | 22 | 18918451 | missense variant | C/T | snv | 7.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 3 | 2002 | 2007 | |||||||
|
22 | 18927834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||||
|
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 | ||||||||
|
0.882 | 0.120 | 22 | 18918464 | missense variant | C/T | snv | 3.8E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
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 | |||||||||||
|
0.925 | 0.120 | 22 | 18918451 | missense variant | C/T | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 22 | 18918451 | missense variant | C/T | snv | 7.2E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 22 | 18913237 | synonymous variant | G/A | snv | 0.78 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 22 | 18918386 | missense variant | G/A | snv | 1.1E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.120 | 22 | 18918386 | missense variant | G/A | snv | 1.1E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
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 |
|
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 | |||||||||||
|
0.851 | 0.120 | 22 | 18918386 | missense variant | G/A | snv | 1.1E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 0 | ||||||||||
|
0.851 | 0.120 | 22 | 18918386 | missense variant | G/A | snv | 1.1E-02 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 18913577 | 3 prime UTR variant | A/G | snv | 0.91 | 7.7E-05 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 |