| 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 | 1.000 | 0.080 | 4 | 34193882 | intron variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 84947358 | intergenic variant | C/T | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 3 | 179850308 | intron variant | G/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 5 | 99159794 | intergenic variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 8 | 63563681 | intergenic variant | G/A | snv | 9.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 3 | 174201323 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 3 | 19055898 | intergenic variant | C/A | snv | 9.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 58041829 | intergenic variant | T/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 15 | 101854599 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 113327793 | synonymous variant | A/G | snv | 0.12 | 9.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 13 | 22791997 | intergenic variant | TCTTTG/- | delins | 2.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 50971652 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 113940539 | intron variant | G/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 135975206 | intron variant | G/A | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 3904005 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 9 | 98330034 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.080 | 1 | 236495210 | intron variant | G/A | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 16 | 23383078 | downstream gene variant | C/T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 13 | 102066314 | intron variant | A/G | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 76128101 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 21 | 15497529 | intron variant | C/A | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 8 | 1771328 | missense variant | C/T | snv | 2.8E-03 | 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 2 | 135861240 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 19 | 19609590 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 22 | 37736644 | intron variant | T/C | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |