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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 6 | 155812936 | intergenic variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 155812754 | intergenic variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 155817575 | regulatory region variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 101327270 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 44124392 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.280 | 20 | 50581336 | missense variant | C/T | snv | 4.8E-03 | 5.0E-03 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.120 | 6 | 38682852 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.851 | 0.240 | 6 | 53545239 | intron variant | G/A;T | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | X | 32448630 | synonymous variant | T/C | snv | 5.7E-06 | 9.5E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
20 | 0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
22 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
30 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
80 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
110 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.020 | 1.000 | 2 | 2002 | 2011 |