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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 3 | 123363551 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 7 | 15024301 | intergenic variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 7 | 44205764 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 19 | 45824675 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 132465032 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 0.827 | 0.240 | 9 | 4292083 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.080 | 10 | 111282335 | intergenic variant | T/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 11 | 47180373 | intron variant | G/A | snv | 0.38 | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 11 | 47207765 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47325172 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 111279909 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 27037601 | missense variant | G/A | snv | 0.32 | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1.000 | 0.080 | 10 | 12265895 | TF binding site variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.080 | 11 | 72721940 | 5 prime UTR variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.080 | 11 | 45851540 | intron variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 11 | 45818158 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 13 | 27913462 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 |