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 | 1.000 | 0.120 | 8 | 6965263 | downstream gene variant | A/G | snv | 0.28 | 0.810 | 1.000 | 4 | 2011 | 2015 | ||||
|
7 | 0.827 | 0.280 | 6 | 32713854 | upstream gene variant | C/T | snv | 0.66 | 0.720 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 7041476 | upstream gene variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2014 | 2015 | |||||
|
2 | 0.925 | 0.160 | 8 | 6964095 | upstream gene variant | T/C | snv | 0.57 | 0.710 | 1.000 | 2 | 2014 | 2015 | ||||
|
2 | 1.000 | 0.120 | 6 | 32702531 | downstream gene variant | A/G | snv | 0.64 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 1.000 | 0.120 | 8 | 7042814 | upstream gene variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 31346439 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 153179546 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 6 | 32703471 | downstream gene variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 8 | 102535511 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 8 | 6953627 | upstream gene variant | T/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 6957996 | downstream gene variant | G/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 33129837 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 8 | 7024116 | downstream gene variant | A/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 7027356 | downstream gene variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 32457105 | downstream gene variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.200 | 6 | 32692101 | TF binding site variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 44066439 | 5 prime UTR variant | G/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.070 | 1.000 | 7 | 1997 | 2010 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 63477294 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.160 | 2 | 110842129 | intron variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.280 | 2 | 54248777 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.030 | 1.000 | 3 | 2003 | 2014 |