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 | 5 | 8116712 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 131285034 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 0.882 | 0.160 | 5 | 8127718 | intergenic variant | T/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 20 | 21492724 | upstream gene variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 45767194 | intron variant | T/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 18 | 43188344 | intergenic variant | A/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 15 | 74035775 | missense variant | A/C;G | snv | 0.52 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 7 | 128769958 | 3 prime UTR variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 4808002 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 19 | 19402761 | intron variant | G/T | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 20154990 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.040 | 3 | 84966628 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 7 | 133822202 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 28034610 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 61193420 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 17 | 19896385 | downstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32185629 | 3 prime UTR variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 88741392 | intron variant | T/A | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 154089125 | intron variant | C/G | snv | 6.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 68477984 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 88823948 | intron variant | A/C | snv | 7.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 85007370 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 107487207 | intron variant | G/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 88689478 | intron variant | G/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 |