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 | 1 | 10297748 | intron variant | G/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 3402268 | intron variant | -/C;CC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 161515469 | intron variant | G/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1 | 214013919 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1 | 231422308 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 231374522 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1 | 214003436 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
8 | 0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 52849688 | intron variant | -/CT;CTT | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 2 | 46133768 | intron variant | G/C | snv | 0.36 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
5 | 2 | 46127912 | intron variant | A/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
5 | 2 | 46126027 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 46066687 | intron variant | C/T | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 121238062 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 2 | 46128709 | intron variant | C/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 111493181 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 46145505 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
19 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 2 | 46803224 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 46125187 | intron variant | C/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 2 | 218693015 | intron variant | G/A;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 144886978 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 |