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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 15 | 80139880 | downstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 11 | 116802796 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 21166787 | intergenic variant | T/G | snv | 0.37 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 1.000 | 0.040 | 11 | 116796621 | upstream gene variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.080 | 8 | 125467120 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 8 | 20019235 | intergenic variant | G/C | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
8 | 0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 8 | 20071071 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 21 | 42199555 | upstream gene variant | T/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.160 | 21 | 42218908 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 17 | 37232521 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 37111115 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 37252940 | synonymous variant | C/T | snv | 0.18 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 37162308 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1.000 | 0.040 | 12 | 109237224 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.83 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 17 | 63484413 | missense variant | C/G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2001 | 2010 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 4 | 112431743 | missense variant | G/A | snv | 0.62 | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 4 | 112431241 | missense variant | G/A | snv | 0.62 | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 |