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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 6 | 32981027 | 3 prime UTR variant | C/T | snv | 0.93 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 6 | 32981027 | 3 prime UTR variant | C/T | snv | 0.93 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 6 | 32981027 | 3 prime UTR variant | C/T | snv | 0.93 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 6 | 32979854 | missense variant | C/T | snv | 4.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 6 | 32979854 | missense variant | C/T | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 6 | 32978186 | missense variant | A/G | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.080 | 6 | 32977925 | stop gained | G/A;T | snv | 1.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2004 | 2009 | ||||||||
|
0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv |
|
Male Urogenital Diseases | 0.020 | 0.500 | 2 | 2011 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 32977805 | missense variant | C/A;T | snv | 4.1E-06; 1.6E-05 |
|
Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 6 | 32977805 | missense variant | C/A;T | snv | 4.1E-06; 1.6E-05 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 6 | 32977541 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||||||
|
0.925 | 0.120 | 6 | 32977541 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||||||
|
1.000 | 0.040 | 6 | 32977458 | missense variant | G/A | snv | 4.0E-06 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | 6 | 32976868 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||||
|
0.851 | 0.120 | 6 | 32976868 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||||
|
0.851 | 0.120 | 6 | 32976868 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.851 | 0.120 | 6 | 32976868 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.080 | 6 | 32976773 | missense variant | T/C | snv | 8.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 6 | 32976773 | missense variant | T/C | snv | 8.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 6 | 32976671 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 6 | 32976655 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 6 | 32976646 | missense variant | G/A | snv | 4.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.030 | 0.667 | 3 | 2006 | 2010 |