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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | < 0.001 | 2 | 2006 | 2013 | ||||
|
11 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 109462738 | 3 prime UTR variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 74842047 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 15 | 26577667 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 15 | 92409620 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 161700816 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 8 | 32629535 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 161685998 | synonymous variant | G/A;C | snv | 0.19 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 13 | 46881488 | intron variant | A/C | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 21 | 44406579 | intron variant | C/A;G | snv | 0.73; 1.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 30845325 | intron variant | C/T | snv | 9.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 71972867 | intron variant | G/A | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
169 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 13 | 105458997 | upstream gene variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 161681878 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 14 | 79417482 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
7 | 0.807 | 0.080 | 13 | 105467097 | missense variant | G/A | snv | 0.40 | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 8 | 32747325 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 170788816 | intron variant | T/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 |