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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 11 | 1100037 | intron variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2013 | 2016 | |||||
|
3 | 0.925 | 0.160 | 10 | 103913084 | intron variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 19 | 4717660 | missense variant | A/G;T | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 13 | 112882313 | 3 prime UTR variant | A/G | snv | 0.77 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 4760288 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1.000 | 0.040 | 17 | 45979401 | non coding transcript exon variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 15 | 40425103 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.080 | 6 | 7562999 | intron variant | T/G | snv | 0.46 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 10 | 66465128 | intron variant | A/G | snv | 0.21 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.080 | 4 | 88890044 | intron variant | G/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 7 | 99995723 | upstream gene variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 0.827 | 0.240 | 3 | 169800667 | missense variant | T/C;G | snv | 0.37; 1.8E-04 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 8 | 119941633 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 15 | 40421575 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 15 | 40359637 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 11 | 1325572 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 6 | 7558085 | intron variant | T/C | snv | 0.20 | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 1062990 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1061718 | intergenic variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1061781 | intergenic variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1062867 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1067011 | intergenic variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1060934 | TF binding site variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 |