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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.080 | 2 | 165354232 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.200 | 4 | 185145020 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 43604750 | stop gained | G/A;C | snv | 1.8E-04 | 0.700 | 0 | |||||||
|
22 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | |||||||
|
12 | 0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 0.700 | 0 | ||||||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 7 | 24282719 | upstream gene variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 24290600 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | X | 15525068 | intron variant | C/T | snv | 4.0E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 11 | 123642798 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 11 | 102724404 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 8 | 42753056 | 3 prime UTR variant | G/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 96115249 | frameshift variant | -/TCCTCTTC | delins | 5.8E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | X | 15523993 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 |