Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 11 | 56698623 | upstream gene variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
4 | 22 | 37071352 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 6 | 109313625 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 9 | 4844265 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 10 | 45459616 | intron variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 16 | 175654 | upstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 22 | 50528485 | non coding transcript exon variant | T/C;G | snv | 0.61; 8.2E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 3 | 196180782 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 6 | 139512875 | intron variant | T/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 3 | 24309320 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
8 | 6 | 25821542 | intron variant | C/T | snv | 6.1E-02 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
2 | 15 | 65759007 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
3 | 6 | 109305762 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 12937794 | upstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 12896644 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 10 | 99522443 | upstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 113599 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 196107486 | regulatory region variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 0.925 | 0.120 | 6 | 25997230 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 7 | 135645230 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 6 | 41824807 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 6 | 26125114 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2012 | 2012 |