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 | 14 | 35339056 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7513784 | intergenic variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7545464 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 54270639 | downstream gene variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 124922340 | intron variant | T/A | snv | 6.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | X | 143602181 | regulatory region variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 39659340 | intergenic variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 117202508 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 117132241 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 17 | 78338705 | intron variant | G/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 158527363 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.851 | 0.080 | 12 | 7538538 | regulatory region variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 12 | 7580629 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 17 | 40012462 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 7531072 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 13 | 73531052 | intron variant | G/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 133269461 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 14 | 32705894 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 22200238 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.120 | 21 | 29305751 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 127107524 | upstream gene variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 105135997 | intron variant | C/G;T | snv | 8.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 27538569 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 3 | 12799435 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 |