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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
4 | 0.851 | 0.200 | 5 | 140631730 | 3 prime UTR variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.807 | 0.200 | 5 | 149431183 | non coding transcript exon variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.120 | 5 | 109066439 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.050 | 1.000 | 5 | 2008 | 2017 | |||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
9 | 0.763 | 0.280 | 6 | 41282728 | missense variant | T/A | snv | 0.13 | 0.12 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.240 | 6 | 41276002 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 6 | 106326589 | upstream gene variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 6 | 31729610 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 0.667 | 3 | 2009 | 2014 |