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 | 0.040 | 6 | 10982126 | 3 prime UTR variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
13 | 1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
3 | 1.000 | 0.040 | 11 | 61887833 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.120 | 11 | 61872101 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 11 | 61874070 | intron variant | G/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 1.000 | 0.080 | 11 | 61888645 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 1.000 | 0.080 | 11 | 61776027 | intron variant | T/C | snv | 0.42 | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.080 | 11 | 61781986 | non coding transcript exon variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 1.000 | 0.080 | 11 | 61798436 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 1.000 | 0.080 | 11 | 61832870 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 11 | 61834531 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 11 | 61856942 | non coding transcript exon variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 11 | 61861650 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.080 | 11 | 61837743 | intron variant | A/G | snv | 0.19 | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.040 | 6 | 10994782 | intron variant | G/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 11 | 61834436 | intron variant | A/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.040 | 11 | 61857233 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 11 | 61857413 | intron variant | G/C;T | snv | 0.81; 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 6 | 11041932 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.925 | 0.160 | 11 | 61804006 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.925 | 0.160 | 11 | 61813163 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.925 | 0.120 | 2 | 27527679 | downstream gene variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 |