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 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
1 | 6 | 32180254 | synonymous variant | A/G | snv | 0.13 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 4 | 45179317 | intergenic variant | A/C;T | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 130764699 | intergenic variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 26581807 | intergenic variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 653245 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 16 | 31014320 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 34801988 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 466003 | intergenic variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 12 | 123924955 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 3 | 12350773 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 16 | 28886131 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
10 | 0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
8 | 18 | 60181790 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
2 | 11 | 27618676 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 45752271 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 14 | 30045906 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 2560680 | upstream gene variant | A/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 96882719 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |