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 | 0.080 | 22 | 30133642 | intron variant | C/A | snv | 0.54 | 0.810 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 | 0.810 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 16 | 85977731 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 11 | 58571651 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
9 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 12 | 40398498 | intron variant | G/A | snv | 3.1E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 12 | 12504579 | intron variant | A/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 19 | 54871595 | upstream gene variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 10 | 79272775 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.120 | 5 | 177367190 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 14 | 68807188 | intergenic variant | T/C | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 11 | 65889093 | upstream gene variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.120 | 20 | 63712604 | intron variant | T/G | snv | 0.70 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 22 | 30090837 | intron variant | A/G | snv | 0.55 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 73991991 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 0.925 | 0.040 | 1 | 197662011 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 70529879 | upstream gene variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 10 | 58238165 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.040 | 5 | 10695414 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 7961913 | 5 prime UTR variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 |