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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 165859989 | intron variant | T/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 2 | 165929290 | stop gained | G/A;C | snv | 1.2E-05; 1.1E-04 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 165919294 | stop gained | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 2 | 165953686 | stop gained | -/CACCCGC | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 165941053 | stop gained | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 165907746 | stop gained | G/A | snv | 6.4E-05 | 9.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | |||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1.000 | 2 | 165883922 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 2 | 165901880 | missense variant | G/A;T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 2 | 165890907 | missense variant | A/G | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 2 | 165917459 | missense variant | T/C | snv | 5.9E-04 | 6.2E-04 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 2 | 165911404 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 2 | 165883978 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |