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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 8 | 2000 | 2015 | ||||||
|
0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2007 | 2011 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2007 | 2011 | |||||||
|
0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.080 | 15 | 40714325 | intron variant | G/A | snv | 0.49 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 15 | 40714325 | intron variant | G/A | snv | 0.49 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 15 | 40729082 | intron variant | C/G | snv | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 15 | 40729082 | intron variant | C/G | snv | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
15 | 40718847 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 15 | 40729620 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 15 | 40729928 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.120 | 15 | 40729955 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2014 | 2015 | |||||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.160 | 15 | 40695367 | 5 prime UTR variant | G/C;T | snv | 0.35 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.160 | 15 | 40695367 | 5 prime UTR variant | G/C;T | snv | 0.35 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.160 | 15 | 40695367 | 5 prime UTR variant | G/C;T | snv | 0.35 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 15 | 40729082 | intron variant | C/G | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 15 | 40729955 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |