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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
3 | 0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 | 0.800 | 1.000 | 2 | 2010 | 2014 | |||
|
3 | 0.925 | 0.080 | 12 | 114656455 | downstream gene variant | A/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
3 | 1.000 | 0.040 | 19 | 31614073 | regulatory region variant | T/C | snv | 0.35 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
5 | 0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 | 0.800 | 1.000 | 2 | 2010 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 50845834 | intron variant | G/A | snv | 0.82 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 4 | 156613097 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 12 | 14389607 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 121425789 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 14439909 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 10 | 121274035 | intergenic variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | X | 55910389 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 121289750 | regulatory region variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 14381492 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1.000 | 0.040 | 12 | 14458588 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 10 | 121285698 | regulatory region variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 17 | 37737784 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 19 | 50851141 | upstream gene variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 22292652 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 102525876 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 205669094 | intron variant | G/A | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 |