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 | 0.925 | 0.080 | 2 | 219833404 | intergenic variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 137811379 | intergenic variant | T/G | snv | 2.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 12 | 23793212 | intron variant | C/T | snv | 7.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 56124624 | 3 prime UTR variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 7 | 93135669 | synonymous variant | C/T | snv | 0.22 | 0.28 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 16 | 31315385 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.280 | 7 | 50597225 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.080 | 16 | 85939422 | intron variant | T/C | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 34959503 | intron variant | A/G | snv | 0.47 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.160 | 7 | 28149792 | intron variant | T/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 58345459 | intron variant | G/A | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 5 | 151060536 | intron variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 35442850 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.280 | 6 | 32623148 | TF binding site variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 31138491 | non coding transcript exon variant | A/C;G | snv | 8.1E-06; 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 106237320 | intron variant | G/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 15 | 75132252 | intergenic variant | A/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 2 | 191075725 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.280 | 6 | 32251212 | upstream gene variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.120 | 5 | 151081488 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 6 | 33075103 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 33107858 | upstream gene variant | A/G | snv | 0.28 | 0.710 | 1.000 | 1 | 2009 | 2009 |