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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
16 | 0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 11 | 61860409 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
3 | 1.000 | 0.080 | 11 | 61861650 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 15 | 58264863 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
4 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
9 | 0.827 | 0.080 | 15 | 58388755 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
4 | 1.000 | 0.080 | 11 | 61837743 | intron variant | A/G | snv | 0.19 | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
5 | 19 | 49496752 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 2 | 210195326 | missense variant | T/G | snv | 0.30 | 0.27 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
2 | 11 | 61837310 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 15 | 58434545 | intron variant | G/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 15 | 58438954 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
2 | 11 | 61835765 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 11 | 61835886 | intron variant | A/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 7 | 73626484 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
5 | 1.000 | 0.040 | 4 | 186236880 | missense variant | G/A;C | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 10 | 98397096 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
10 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 4 | 78667891 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 11 | 61887833 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2012 | 2012 |