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 | 16 | 83730599 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 3 | 30668751 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 2 | 227850659 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
2 | 9 | 24732484 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 168184876 | intron variant | T/G | snv | 0.37 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.040 | 1 | 11806126 | 5 prime UTR variant | C/T | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1 | 215739300 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 3 | 2011 | 2011 | ||||
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
6 | 1.000 | 0.040 | 10 | 61764833 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 2 | 2011 | 2011 | |||
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 2 | 10153562 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 131708291 | upstream gene variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 127457345 | intron variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
10 | 0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 12 | 89632746 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 92340986 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 11 | 130403335 | non coding transcript exon variant | A/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 |