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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 1 | 236296485 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.120 | 17 | 40422984 | intergenic variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 21 | 28104158 | intron variant | G/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 113117988 | 5 prime UTR variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.160 | 17 | 39905964 | missense variant | C/T | snv | 0.43 | 0.39 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | X | 76568453 | intergenic variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 39955592 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 137974195 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 17 | 39972395 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 39946763 | downstream gene variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 17 | 39963001 | intron variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.807 | 0.160 | 17 | 39924612 | intron variant | A/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.120 | 8 | 32750356 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.080 | 17 | 39910767 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.160 | 17 | 39932164 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 17 | 39951374 | upstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 39209446 | downstream gene variant | C/T | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 17 | 39938921 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 17 | 39958345 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 69018096 | intron variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 39952455 | upstream gene variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 39958108 | intron variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2007 | 2007 |