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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||
|
3 | 0.925 | 0.120 | 6 | 32593082 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 6 | 32634705 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.827 | 0.360 | 6 | 31634066 | non coding transcript exon variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.200 | 6 | 31651799 | 5 prime UTR variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.240 | 6 | 32443949 | intron variant | G/A | snv | 0.82 | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 1.000 | 0.120 | 6 | 31645962 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 31624031 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 31629923 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.120 | 6 | 31630712 | synonymous variant | A/G | snv | 0.15 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 31641495 | non coding transcript exon variant | T/C | snv | 0.15 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 13 | 22735243 | intergenic variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 6 | 32398644 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 6 | 32444611 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 4 | 129344228 | regulatory region variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 82625296 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 |