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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 11 | 45818158 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 3 | 49417897 | synonymous variant | C/A;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 9344277 | intron variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 131285034 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 21169976 | intron variant | A/G | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 111217250 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 27390750 | intron variant | G/A;T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 153109990 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.160 | 10 | 113029056 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 46279171 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
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 | ||||||
|
3 | 15 | 62142957 | regulatory region variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 170995501 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 11 | 45818338 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.120 | 2 | 27744393 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 3 | 56764467 | intron variant | C/T | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 5 | 96207022 | intron variant | C/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.120 | 2 | 27296386 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 2 | 80058810 | intron variant | G/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 0.925 | 0.080 | 2 | 168896905 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.200 | 2 | 27201768 | missense variant | G/A | snv | 0.62 | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.040 | 11 | 45858188 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 |