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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 2 | 21174310 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 8 | 125467073 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
7 | 1.000 | 0.080 | 20 | 45906012 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 16 | 15054789 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 72456848 | intron variant | T/C | snv | 5.7E-03 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62503731 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 73596112 | intron variant | C/T | snv | 0.15 | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 58388444 | intron variant | G/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 19 | 11077477 | intron variant | A/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1 | 161571067 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 6 | 30049294 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 |