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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 4 | 110409934 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.760 | 0.857 | 7 | 2011 | 2018 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 5 | 33204354 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 142915715 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1 | 151368294 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
4 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2015 | ||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 132431666 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 4 | 3004316 | missense variant | C/A;G;T | snv | 0.36 | 0.050 | 1.000 | 5 | 2006 | 2017 | ||||
|
3 | 8 | 55901862 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 27288591 | intergenic variant | A/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 1.000 | 0.040 | 4 | 148126966 | intron variant | G/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 31335440 | 3 prime UTR variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 17 | 63487006 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.100 | 0.833 | 12 | 2001 | 2015 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.100 | 0.833 | 12 | 2001 | 2017 |