| 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 | 10 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
1 | 2 | 232639279 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 99372525 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 17933413 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 95305887 | intron variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 33108491 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 32223562 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 9 | 2809077 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 110871498 | non coding transcript exon variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 129167622 | intron variant | T/C | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 107800953 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 94074274 | intron variant | C/T | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 61567782 | downstream gene variant | G/A | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 17693720 | intron variant | T/C | snv | 3.4E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 20989760 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 34322165 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 136024992 | intron variant | C/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 27558905 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 26368897 | intron variant | G/A | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 29256913 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 17833817 | synonymous variant | T/A | snv | 4.5E-04 | 0.49 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 10 | 18221519 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 183833125 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 99761184 | TF binding site variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 48651222 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |