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 | 0.851 | 0.080 | 3 | 52694788 | 3 prime UTR variant | C/T | snv | 0.38 | 0.33 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||
|
2 | 0.925 | 0.040 | 6 | 75531811 | intergenic variant | C/A;T | snv | 0.12 | 0.710 | 1.000 | 3 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 65556254 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 44809954 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 75454873 | intron variant | C/A | snv | 7.3E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 67078168 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.040 | 1 | 219570796 | intergenic variant | C/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 1.000 | 0.040 | 19 | 55368304 | missense variant | C/T | snv | 2.1E-02 | 1.8E-02 | 0.710 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 1.000 | 0.040 | 9 | 116504416 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 17 | 61574921 | TF binding site variant | T/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
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 | |||
|
2 | 0.925 | 0.040 | 9 | 4295583 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 122122290 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 12 | 89933142 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 96089185 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 6 | 26123274 | intron variant | T/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 183937111 | 3 prime UTR variant | C/A;T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 4 | 1702517 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 8 | 8666851 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 150474986 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 6 | 45177665 | intron variant | C/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 191807255 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 115078463 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 11 | 28853450 | intron variant | A/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |