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 | 0.080 | 11 | 101128556 | missense variant | A/G | snv | 1.4E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.925 | 0.080 | 11 | 101128556 | missense variant | A/G | snv | 1.4E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.040 | 11 | 101039078 | 3 prime UTR variant | A/G | snv | 0.24 | 0.29 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 11 | 101129770 | 5 prime UTR variant | A/G | snv | 0.86 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 11 | 101129770 | 5 prime UTR variant | A/G | snv | 0.86 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 11 | 101128998 | missense variant | A/G | snv | 4.8E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 11 | 101128998 | missense variant | A/G | snv | 4.8E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 11 | 101039579 | intron variant | A/T | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 11 | 101039579 | intron variant | A/T | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 11 | 101035002 | 3 prime UTR variant | A/T | snv | 0.27 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 11 | 101035002 | 3 prime UTR variant | A/T | snv | 0.27 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 11 | 101035002 | 3 prime UTR variant | A/T | snv | 0.27 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
11 | 101047942 | intron variant | C/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 101047942 | intron variant | C/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 101047942 | intron variant | C/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
11 | 101117160 | intron variant | C/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 101117160 | intron variant | C/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 101117160 | intron variant | C/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.667 | 6 | 2002 | 2020 | |||||||
|
0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.667 | 6 | 2002 | 2020 |