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 | 0.925 | 0.040 | 21 | 38635298 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.882 | 0.120 | 16 | 53766065 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 6 | 75531811 | intergenic variant | C/A;T | snv | 0.12 | 0.710 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.040 | 6 | 33087724 | 3 prime UTR variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 2 | 113133835 | 3 prime UTR variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 104667230 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 104666989 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 6 | 43764117 | regulatory region variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.200 | 16 | 53805223 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 6 | 55772142 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 1715043 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 58895817 | intron variant | A/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 | 0.030 | 1.000 | 3 | 2004 | 2009 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
1 | 1.000 | 0.040 | 2 | 70487661 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 19 | 41327879 | intron variant | G/A | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 46578520 | intron variant | C/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 1 | 40307477 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 2 | 47176459 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 17 | 61574921 | TF binding site variant | T/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.040 | 15 | 68789051 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 3 | 52694788 | 3 prime UTR variant | C/T | snv | 0.38 | 0.33 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||
|
2 | 1.000 | 0.040 | 3 | 52786965 | missense variant | A/G;T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 21 | 29021343 | upstream gene variant | A/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 126624581 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |