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 | Y | 56944005 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | X | 69161421 | missense variant | C/A;T | snv | 0.16; 5.5E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | X | 137031305 | missense variant | C/A | snv | 0.37 | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | X | 118753835 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | X | 31836665 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | X | 118782407 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 153629096 | intergenic variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 53515142 | intergenic variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 22 | 40208941 | intron variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
1 | 22 | 40317857 | intron variant | T/A | snv | 0.69 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 22 | 48475207 | non coding transcript exon variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 22 | 34739115 | intergenic variant | G/A | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 40162060 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 40258272 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 37921130 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 19961490 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 21835874 | intron variant | C/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 41408712 | regulatory region variant | G/A;C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 17744231 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 46255726 | 3 prime UTR variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 40294381 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 50054998 | intron variant | T/G | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 22 | 37907148 | non coding transcript exon variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 42213142 | missense variant | T/C | snv | 0.18 | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 22 | 50275860 | intron variant | T/C | snv | 0.74 | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 |