| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 17274327 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 10977377 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 26795661 | intron variant | C/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 7890788 | intergenic variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 227315768 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 85062323 | 5 prime UTR variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 15806901 | downstream gene variant | C/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 211179283 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 1 | 17270928 | missense variant | C/T | snv | 6.8E-03 | 6.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1 | 8183042 | intergenic variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 28179554 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 61234587 | intron variant | T/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 205211934 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 10573188 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 240239353 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 1216593 | upstream gene variant | G/A;C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 7947535 | upstream gene variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 8203048 | intron variant | C/T | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 221186699 | intergenic variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 28391437 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 174962131 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 2 | 239028127 | regulatory region variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 191231993 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 222245793 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 222268789 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 |