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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 | 0.740 | 1.000 | 11 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 | 0.720 | 0.900 | 10 | 2014 | 2019 | ||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.880 | 1.000 | 10 | 2009 | 2018 | |||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.850 | 0.889 | 9 | 2011 | 2017 | ||||
|
5 | 0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 | 0.090 | 0.667 | 9 | 2003 | 2016 | |||
|
3 | 1.000 | 0.040 | 22 | 41191552 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 9 | 2014 | 2019 | ||||
|
4 | 1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 | 0.810 | 1.000 | 8 | 2013 | 2019 | ||||
|
3 | 1.000 | 0.040 | 11 | 124744061 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 8 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
3 | 1.000 | 0.040 | 5 | 154301187 | intron variant | A/T | snv | 0.37 | 0.700 | 1.000 | 7 | 2014 | 2019 | ||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 30496516 | intron variant | A/G | snv | 0.19 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 137390098 | 3 prime UTR variant | T/C | snv | 0.29 | 0.700 | 1.000 | 7 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 90883330 | 3 prime UTR variant | G/A;C | snv | 0.720 | 1.000 | 7 | 2014 | 2019 | |||||
|
3 | 0.925 | 0.040 | 16 | 13656002 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 7 | 2014 | 2019 | |||||
|
2 | 1.000 | 0.040 | 7 | 131882504 | intergenic variant | A/G | snv | 0.73 | 0.700 | 1.000 | 7 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 224526579 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 6 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 23421980 | intergenic variant | T/A | snv | 0.33 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 14 | 71950609 | intron variant | C/G | snv | 0.76 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 110285440 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 117270390 | intron variant | G/A | snv | 0.64 | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 36817092 | downstream gene variant | C/T | snv | 0.26 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 11 | 123523928 | intron variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2014 | 2019 | |||||
|
2 | 1.000 | 0.040 | 10 | 18456176 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 6 | 2014 | 2019 |