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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 4 | 73413512 | synonymous variant | C/T | snv | 1.1E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.160 | 6 | 43781426 | non coding transcript exon variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.240 | 6 | 26093226 | missense variant | G/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.120 | 7 | 134431881 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 94213172 | intron variant | A/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 10 | 20253705 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 243998680 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 94221997 | intron variant | A/G | snv | 8.7E-02 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 166962488 | regulatory region variant | A/G | snv | 5.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 13 | 96299179 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 6 | 165065309 | intron variant | A/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 165064562 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 58696476 | intron variant | T/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 165419892 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 4 | 161329780 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 244013122 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 16 | 7365551 | intron variant | A/G | snv | 0.87 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 244006892 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 983130 | intron variant | T/C | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 18 | 49581427 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |