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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 170813611 | non coding transcript exon variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 170860293 | 3 prime UTR variant | G/A | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 16 | 10174473 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 5 | 37811762 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 9971279 | intron variant | T/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 10183568 | upstream gene variant | CACACACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACACA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 113112812 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 154090110 | missense variant | G/T | snv | 5.6E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.120 | 5 | 37824138 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.200 | 22 | 38299094 | intron variant | T/C | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 22 | 38319217 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 69596980 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 86642700 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 86643624 | upstream gene variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 18 | 77268853 | missense variant | G/A | snv | 0.98 | 0.91 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 28848861 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 16 | 9754614 | 3 prime UTR variant | T/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2014 | 2014 |