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 | 0.925 | 0.120 | 1 | 145711946 | upstream gene variant | T/G | snv | 0.44 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 1 | 145711327 | upstream gene variant | T/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
5 | 0.882 | 0.160 | 1 | 145711421 | upstream gene variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145731972 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145832321 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145836072 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 1 | 145759132 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 1 | 145744615 | 3 prime UTR variant | G/A;C | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 1 | 145709377 | upstream gene variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145798852 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 1 | 145790097 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145795753 | intron variant | C/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145753588 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145704906 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145728029 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 160176704 | intron variant | C/G | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 145741704 | 3 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145745816 | 3 prime UTR variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145846884 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145783203 | intron variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145738392 | 3 prime UTR variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 145772412 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.240 | 1 | 155227671 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |