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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.240 | 7 | 141972804 | missense variant | T/C | snv | 0.49 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.776 | 0.080 | 10 | 50888694 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 6297738 | regulatory region variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 58487781 | downstream gene variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.776 | 0.080 | 9 | 110909123 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 13505086 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
10 | 0.776 | 0.080 | 20 | 7760329 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 10 | 99591947 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 10 | 112962862 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.710 | 1.000 | 2 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 |