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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.880 | 1.000 | 9 | 2011 | 2020 | |||||
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.870 | 1.000 | 10 | 2011 | 2019 | ||||
|
5 | 0.882 | 0.040 | 8 | 97154685 | intergenic variant | T/C | snv | 0.75 | 0.860 | 1.000 | 6 | 2010 | 2018 | ||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.850 | 1.000 | 9 | 2011 | 2019 | ||||
|
4 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 0.830 | 0.800 | 5 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.040 | 7 | 40426601 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 | 0.820 | 0.500 | 4 | 2012 | 2017 | |||
|
2 | 1.000 | 0.040 | 1 | 4122946 | intergenic variant | A/G | snv | 0.29 | 0.820 | 0.667 | 3 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.040 | 3 | 30438593 | intergenic variant | C/G;T | snv | 0.810 | 0.500 | 2 | 2013 | 2014 | |||||
|
1 | 3 | 30420911 | regulatory region variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2014 | |||||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 39215694 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 3 | 2013 | 2016 | ||||
|
3 | 0.925 | 0.040 | 9 | 116490350 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 1 | 156480948 | missense variant | G/A;C | snv | 0.62 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 1 | 156486509 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 4414290 | intergenic variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 130369801 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 14903407 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 87152280 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 96437010 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 6 | 96617336 | downstream gene variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 8 | 24186788 | intergenic variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 18 | 46108610 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 115662708 | intron variant | A/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 |