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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 6 | 32703471 | downstream gene variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 17 | 7587859 | 3 prime UTR variant | G/T | snv | 0.71 | 0.67 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.160 | 2 | 110842129 | intron variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | ||||
|
3 | 0.882 | 0.200 | 16 | 31357553 | missense variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.200 | 6 | 33118671 | non coding transcript exon variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 102535511 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.200 | 6 | 32843852 | missense variant | G/T | snv | 0.14 | 0.13 | 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 | ||||
|
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 | 3 | 187020633 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 32457105 | downstream gene variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.763 | 0.400 | 6 | 31306603 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 6 | 32692101 | TF binding site variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 8 | 6840209 | intron variant | C/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 1 | 161170696 | missense variant | G/A;T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 7 | 7233928 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 7 | 7243938 | 3 prime UTR variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.320 | 2 | 102100877 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 18 | 63805221 | 3 prime UTR variant | T/C | snv | 0.61 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 18 | 63805309 | 3 prime UTR variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 16 | 82148406 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 16 | 82148329 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |