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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 6 | 31636814 | missense variant | C/T | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 6 | 32621223 | regulatory region variant | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 6 | 32189131 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.120 | 6 | 32187221 | non coding transcript exon variant | C/T | snv | 0.18 | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 32186508 | non coding transcript exon variant | A/G | snv | 0.21 | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.200 | 6 | 32444069 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.240 | 6 | 32444056 | intron variant | C/A;T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 6 | 32399827 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 6 | 32399738 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 32399482 | intron variant | T/A;G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 0.851 | 0.280 | 6 | 32445540 | downstream gene variant | G/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 6 | 31633043 | intron variant | A/G;T | snv | 0.15 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 6 | 32403039 | missense variant | G/A | snv | 0.14 | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 6 | 32405186 | synonymous variant | G/A | snv | 0.12 | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 |