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 | 14 | 100372924 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 106465562 | upstream gene variant | C/A | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 9 | 108918079 | intron variant | T/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 111217250 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 111279909 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 1.000 | 0.080 | 10 | 111282335 | intergenic variant | T/G | snv | 0.71 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
4 | 0.925 | 0.160 | 10 | 112992744 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
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 | 3 | 113304023 | missense variant | T/A;C | snv | 0.98 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
5 | 1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
5 | 1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
2 | 8 | 117179236 | downstream gene variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.120 | 8 | 117537137 | intron variant | T/C | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 12 | 121500382 | intron variant | C/G | snv | 0.30 | 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 | ||||
|
4 | 1.000 | 0.080 | 10 | 12265895 | TF binding site variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 9 | 122665528 | downstream gene variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
3 | 1.000 | 0.080 | 3 | 123363551 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
4 | 3 | 123375604 | intron variant | T/C | snv | 0.76 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 7 | 131285034 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |