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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.040 | 1.000 | 4 | 2009 | 2015 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2005 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2006 | ||||
|
7 | 0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||||
|
4 | 1.000 | 0.080 | 6 | 160247357 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
4 | 1.000 | 0.080 | 9 | 68819791 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2008 | 2014 | |||||
|
7 | 0.882 | 0.200 | 6 | 43838872 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 5 | 118700852 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 10 | 19875064 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 17 | 39475671 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 11 | 74005787 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 22 | 18923820 | non coding transcript exon variant | C/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.200 | 12 | 12718066 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 6 | 110454809 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 6 | 31577208 | missense variant | G/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 58989799 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |