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 | 5 | 75340659 | intron variant | C/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 23439740 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.120 | 11 | 118615352 | intron variant | T/C | snv | 0.57 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 46425014 | regulatory region variant | C/T | snv | 8.9E-03 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 202667581 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 7 | 1044141 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 115636338 | intron variant | A/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 6 | 39283061 | regulatory region variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 22 | 46231706 | intron variant | C/T | snv | 7.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 31395996 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 4 | 3471412 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 125492484 | intron variant | T/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 4 | 87238988 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 116851325 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 5 | 173965395 | downstream gene variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 41472901 | intron variant | A/G;T | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 104888562 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 87447271 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 20982585 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 168974288 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 2 | 101025798 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 |