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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.040 | 13 | 105451011 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.240 | 1 | 53247055 | missense variant | C/T | snv | 0.29 | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 11 | 113573031 | intergenic variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 2 | 170845970 | intron variant | C/T | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 22 | 19942636 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 2 | 133257389 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
10 | 0.776 | 0.320 | 6 | 30814225 | non coding transcript exon variant | C/T | snv | 7.1E-02 | 8.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.827 | 0.200 | 2 | 238246412 | missense variant | C/T | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 3 | 25070680 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.960 | 25 | 1997 | 2019 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.070 | 0.857 | 7 | 2007 | 2017 | |||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
2 | 1.000 | 0.040 | 8 | 31637858 | upstream gene variant | G/A | snv | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 1 | 29958713 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 238275940 | intron variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 2 | 133247997 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 92913536 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 9 | 137156924 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 56085576 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.040 | 18 | 55084786 | intergenic variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.120 | 12 | 72032174 | 3 prime UTR variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 |