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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 14 | 23392602 | missense variant | A/G | snv | 0.34 | 0.45 | 0.800 | 1.000 | 2 | 2010 | 2013 | |||
|
1 | 8 | 37238541 | intergenic variant | G/T | snv | 0.58 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 121810339 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 110717726 | downstream gene variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 207767508 | non coding transcript exon variant | T/A | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 6 | 118346359 | intergenic variant | T/C | snv | 0.40 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.080 | 6 | 121460244 | intergenic variant | T/C | snv | 0.61 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 207955720 | upstream gene variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 6846127 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 231406573 | regulatory region variant | A/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 100899511 | upstream gene variant | A/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 177815704 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 121409576 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 1.000 | 0.080 | 12 | 24617944 | intergenic variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 2 | 178856319 | missense variant | G/A | snv | 6.0E-02 | 6.1E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
12 | 0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 14 | 85343567 | intergenic variant | T/C | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 93920284 | upstream gene variant | T/A | snv | 0.61 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 106755644 | intron variant | A/T | snv | 0.63 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 136957887 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 36824281 | intron variant | C/T | snv | 0.31 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 187468337 | intron variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 15 | 73373165 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 20 | 38215636 | intron variant | C/T | snv | 0.40 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 5 | 173237160 | upstream gene variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 |