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 | 6 | 32470871 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 32470765 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 32621223 | regulatory region variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
10 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 6 | 32460012 | non coding transcript exon variant | T/C | snv | 0.61 | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32442939 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 6 | 31683417 | intron variant | A/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.120 | 6 | 31672202 | missense variant | C/T | snv | 7.4E-02 | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 32443258 | splice acceptor variant | A/C;T | snv | 0.61; 8.1E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 116037356 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.040 | 6 | 32452402 | regulatory region variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32444762 | 3 prime UTR variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 32474484 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 3 | 109735523 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
10 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 4 | 136134743 | intron variant | G/C | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 15683126 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 82625296 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 129344228 | regulatory region variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 6 | 32444611 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32398644 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 |