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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 8 | 40626720 | intron variant | T/C | snv | 0.78 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.800 | 1.000 | 9 | 2008 | 2019 | |||
|
2 | 2 | 168917561 | intron variant | C/A | snv | 0.75 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.800 | 1.000 | 11 | 2009 | 2019 | ||||
|
8 | 0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv | 0.800 | 1.000 | 7 | 2009 | 2019 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 92958366 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
1 | 7 | 40304762 | intron variant | C/A;G | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 14 | 62662722 | regulatory region variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 44403953 | synonymous variant | T/C | snv | 2.1E-02 | 2.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 11 | 121522517 | intron variant | C/T | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 11 | 106465562 | upstream gene variant | C/A | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 80058810 | intron variant | G/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 20 | 7327891 | intergenic variant | T/C | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 166334297 | intergenic variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 14 | 97688682 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 5 | 13986417 | regulatory region variant | G/A | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 19 | 55156438 | non coding transcript exon variant | T/C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 113304023 | missense variant | T/A;C | snv | 0.98 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 7529700 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 168954714 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 168945742 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 21 | 18958319 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 7 | 2010 | 2019 |