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 | 0.923 | 0.071 | 17 | 2268343 | intron variant | C/A | snp | 0.28 | 0.800 | 1 | 2012 | 2012 | |||||
|
2 | 0.923 | 0.071 | 3 | 187075454 | intron variant | G/A | snp | 0.17 | 0.800 | 1 | 2012 | 2012 | |||||
|
3 | 0.878 | 0.071 | 22 | 28796682 | non coding transcript exon variant | T/C | snp | 0.45 | 0.800 | 1 | 2012 | 2012 | |||||
|
3 | 0.923 | 0.071 | 18 | 12821594 | intron variant | A/G | snp | 0.32 | 0.800 | 1 | 2012 | 2012 | |||||
|
2 | 0.923 | 0.071 | 16 | 50069823 | intron variant | C/T | snp | 8.5E-02 | 0.800 | 1 | 2012 | 2012 | |||||
|
3 | 0.878 | 0.071 | 22 | 28719078 | intron variant | C/T | snp | 0.31 | 0.800 | 1 | 2012 | 2012 | |||||
|
2 | 0.923 | 0.071 | 17 | 41741012 | intergenic variant | A/C,G,T | snp | 0.84 | 0.800 | 1 | 2012 | 2012 | |||||
|
17 | 0.699 | 0.250 | 10 | 94306584 | missense variant | A/G | snp | 0.28 | 0.31 | 0.710 | 1.000 | 3 | 2010 | 2014 | |||
|
14 | 0.724 | 0.321 | 11 | 89284793 | missense variant | G/A | snp | 0.18 | 0.18 | 0.710 | 1.000 | 2 | 2009 | 2017 | |||
|
23 | 0.652 | 0.250 | 13 | 32398489 | stop gained | A/T | snp | 6.6E-03 | 5.4E-03 | 0.710 | 1.000 | 2 | 2014 | 2015 | |||
|
22 | 0.699 | 0.250 | 6 | 396321 | intron variant | C/T | snp | 9.0E-02 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
9 | 0.878 | 0.036 | 5 | 33951588 | missense variant | C/A,G | snp | 0.65 | 0.68 | 0.710 | 1.000 | 2 | 2009 | 2017 | |||
|
2 | 0.923 | 0.071 | 1 | 162778600 | missense variant | T/A,G | snp | 0.700 | 3 | 2008 | 2014 | ||||||
|
1 | 1.000 | 0.036 | 10 | 94285156 | intron variant | G/A | snp | 0.31 | 0.700 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.036 | 9 | 72790943 | intron variant | T/A,G | snp | 0.26 | 0.700 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 2 | 201335852 | intron variant | C/T | snp | 0.56 | 0.700 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 2 | 106809420 | intron variant | A/G | snp | 0.21 | 0.700 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 2 | 201340018 | intron variant | T/C | snp | 0.73 | 0.700 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 2 | 201338068 | intron variant | A/G | snp | 0.49 | 0.700 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 7 | 28102469 | intron variant | A/G,T | snp | 0.45 | 0.700 | 1 | 2012 | 2012 | |||||
|
2 | 0.923 | 0.071 | 4 | 99307309 | 3 prime UTR variant | T/C | snp | 0.26 | 0.700 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.036 | 2 | 201347651 | intron variant | G/A,T | snp | 0.56; 2.6E-04 | 0.700 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 18 | 55138645 | G/A | snp | 0.21 | 0.700 | 1 | 2012 | 2012 | ||||||
|
3 | 0.878 | 0.071 | 18 | 36114157 | synonymous variant | G/A | snp | 0.33 | 0.30 | 0.700 | 1 | 2013 | 2013 | ||||
|
4 | 0.846 | 0.071 | 2 | 201279205 | intron variant | T/C | snp | 0.73 | 0.700 | 1 | 2012 | 2012 |