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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 2 | 214751984 | intron variant | C/T | snv | 0.49 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | C/A;T | snv | 1.6E-05; 0.37 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 2 | 214730440 | missense variant | G/A;T | snv | 8.4E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 214730440 | missense variant | G/A;T | snv | 8.4E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 214730440 | missense variant | G/A;T | snv | 8.4E-03 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 214745739 | missense variant | G/A;T | snv | 8.0E-06; 1.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 2 | 214745739 | missense variant | G/A;T | snv | 8.0E-06; 1.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 2 | 214780411 | intron variant | A/G | snv | 0.74 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 214780411 | intron variant | A/G | snv | 0.74 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 214780411 | intron variant | A/G | snv | 0.74 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.200 | 2 | 214730491 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.200 | 2 | 214730491 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |