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 | 154841877 | intron variant | C/T | snv | 0.28 | 0.870 | 1.000 | 7 | 2010 | 2015 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.050 | 1.000 | 5 | 2004 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 154890476 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 147773393 | upstream gene variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
9 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
12 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 0.030 | 1.000 | 3 | 2010 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 170224684 | intron variant | G/C | snv | 7.3E-02 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 203057086 | intron variant | T/G | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 154772376 | synonymous variant | A/G | snv | 0.77 | 0.71 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
2 | 1.000 | 0.080 | 1 | 111849738 | intron variant | G/T | snv | 0.10 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 51069367 | intergenic variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 41078607 | intron variant | G/T | snv | 0.72 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 170600176 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 154741530 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 170618199 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 170225682 | intron variant | C/A;T | snv | 7.9E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 147783720 | intron variant | G/A | snv | 4.8E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 170216500 | intron variant | C/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 154422649 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 203062187 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 48844092 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 170224718 | intron variant | T/A | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |