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 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 8 | 100125669 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 2 | 102153326 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102154881 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102267515 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102270668 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv | 0.820 | 1.000 | 1 | 2011 | 2019 | |||||
|
2 | 0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102338596 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 | 0.810 | 1.000 | 1 | 2011 | 2014 | ||||
|
1 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 1 | 2010 | 2020 | |||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 102354740 | intron variant | T/C;G | snv | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 2 | 102361999 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102368164 | intron variant | C/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102369762 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 102426252 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 102432614 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 8 | 104799137 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |