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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 11 | 13492804 | missense variant | A/G | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 3 | 1990 | 2007 | ||||||||
|
1.000 | 0.040 | 11 | 13492789 | missense variant | A/G | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 3 | 1990 | 2007 | ||||||||
|
1.000 | 0.120 | 11 | 13492413 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 11 | 13491931 | downstream gene variant | G/A | snv | 0.40 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 11 | 13491931 | downstream gene variant | G/A | snv | 0.40 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 11 | 13491818 | downstream gene variant | A/C | snv | 0.40 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 11 | 13491818 | downstream gene variant | A/C | snv | 0.40 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 11 | 13492716 | intron variant | C/A;T | snv | 4.0E-06; 0.28 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 11 | 13492716 | intron variant | C/A;T | snv | 4.0E-06; 0.28 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.200 | 11 | 13492551 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 11 | 13492788 | stop gained | G/T | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 11 | 13492788 | stop gained | G/T | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 11 | 13492788 | stop gained | G/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 11 | 13492786 | missense variant | C/A | snv | 4.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |