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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 12 | 89632746 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 14916619 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 11 | 58439730 | missense variant | C/G;T | snv | 0.21 | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 11 | 16286154 | intron variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 10 | 18451703 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
16 | 0.851 | 0.120 | 12 | 3060327 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 11 | 45753446 | upstream gene variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 5 | 132448701 | intron variant | G/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 5 | 32831833 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 18 | 44562012 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 2245223 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 6 | 148791054 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 6 | 126859944 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 2 | 164242705 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 10334568 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 112481358 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 141415976 | intron variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.040 | 1 | 11800786 | non coding transcript exon variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 6 | 150676304 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.851 | 0.120 | 7 | 19177581 | regulatory region variant | G/A | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |