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 | 0.120 | 6 | 151747229 | intron variant | G/A | snv | 0.55 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||
|
6 | 151769572 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151689119 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2018 | |||||||||||
|
1.000 | 6 | 152011684 | missense variant | G/T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
6 | 151688503 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 6 | 152011740 | missense variant | G/A | snv |
|
0.800 | 0 | |||||||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.760 | 1.000 | 9 | 2000 | 2013 | ||||||||
|
0.827 | 0.160 | 6 | 151666222 | intron variant | G/T | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 3 | 2011 | 2014 | |||||||
|
0.827 | 0.160 | 6 | 151666222 | intron variant | G/T | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 3 | 2011 | 2014 | |||||||
|
6 | 152011697 | missense variant | G/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2013 | 2014 | ||||||||||
|
6 | 152098785 | missense variant | T/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||||
|
6 | 151687645 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 152094402 | missense variant | T/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 6 | 152098779 | missense variant | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 152098782 | missense variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 151718829 | intron variant | T/C | snv | 0.33 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 151711782 | intron variant | C/T | snv | 0.26 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
6 | 151756711 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151759600 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 151754327 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 151696556 | intron variant | T/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151991280 | intron variant | A/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 151761234 | intron variant | C/T | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151771503 | intron variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151742863 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 |