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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.900 | 0.971 | 35 | 2007 | 2019 | ||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.900 | 0.933 | 15 | 2007 | 2019 | ||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.900 | 0.929 | 14 | 2009 | 2019 | |||||
|
17 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 0.100 | 1.000 | 11 | 2006 | 2019 | |||
|
2 | 1.000 | 0.080 | 7 | 116546187 | intron variant | A/G | snv | 0.53 | 0.870 | 0.875 | 8 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 154841877 | intron variant | C/T | snv | 0.28 | 0.870 | 1.000 | 7 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.120 | 16 | 72995261 | intron variant | T/A;C | snv | 0.870 | 0.857 | 7 | 2009 | 2019 | |||||
|
3 | 0.882 | 0.080 | 4 | 110784612 | intergenic variant | T/C | snv | 0.19 | 0.840 | 1.000 | 6 | 2012 | 2018 | ||||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 103539854 | intron variant | T/C | snv | 0.27 | 0.740 | 0.800 | 5 | 2016 | 2019 | ||||
|
3 | 0.925 | 0.120 | 4 | 110796911 | non coding transcript exon variant | G/A | snv | 0.71 | 0.810 | 1.000 | 5 | 2010 | 2018 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.050 | 1.000 | 5 | 2004 | 2015 | |||
|
3 | 1.000 | 0.080 | 12 | 114355435 | 3 prime UTR variant | C/G;T | snv | 1.8E-05; 0.61 | 0.710 | 1.000 | 5 | 2016 | 2018 | ||||
|
4 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 0.710 | 1.000 | 4 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 103720629 | intron variant | T/A | snv | 0.11 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
8 | 0.851 | 0.080 | 12 | 114357638 | intron variant | G/A | snv | 0.77 | 0.730 | 1.000 | 4 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 110840331 | regulatory region variant | T/C | snv | 0.22 | 0.710 | 1.000 | 4 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 94951177 | intron variant | C/A | snv | 0.34 | 0.810 | 1.000 | 3 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 73661450 | intron variant | G/A | snv | 0.68 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.080 | 12 | 24635405 | intergenic variant | G/A | snv | 0.12 | 0.720 | 1.000 | 3 | 2012 | 2019 | ||||
|
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 | 10 | 103582915 | non coding transcript exon variant | A/G | snv | 0.16 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2011 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.030 | 1.000 | 3 | 2010 | 2014 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.030 | 1.000 | 3 | 2012 | 2014 |