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 | 1.000 | 0.080 | 3 | 779530 | intron variant | A/C | snv | 8.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 116881377 | intron variant | A/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 79310483 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 186933001 | intron variant | A/G | snv | 0.88 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 18 | 66962261 | intergenic variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 29860883 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 12 | 78807293 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 18793883 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 5092045 | intergenic variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 9593742 | intron variant | A/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 123918335 | intron variant | A/T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 121540642 | intergenic variant | C/A;G | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 50657831 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 7 | 140018347 | intron variant | C/G;T | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 26614849 | intergenic variant | C/T | snv | 0.40 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 9841518 | non coding transcript exon variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 92818147 | intergenic variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 98315682 | intron variant | G/A | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 3 | 12288912 | 5 prime UTR variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 6845651 | intron variant | G/A | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 56422795 | intergenic variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 1 | 209942767 | intron variant | G/A | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 |