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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.036 | 12 | 63150429 | missense variant | A/C,G,T | snp | 0.60; 1.2E-05 | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.036 | 1 | 7820623 | missense variant | T/G | snp | 0.17 | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.923 | 0.036 | 12 | 120993532 | missense variant | C/T | snp | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.036 | 12 | 63144678 | 3 prime UTR variant | G/A | snp | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.036 | 9 | 122407651 | intron variant | C/T | snp | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.036 | 15 | 62141763 | intergenic variant | A/G | snp | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.036 | 15 | 45360505 | intergenic variant | C/T | snp | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.036 | 19 | 8373832 | synonymous variant | G/A,C | snp | 0.10; 4.0E-06 | 9.5E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.036 | 12 | 120999579 | missense variant | A/G | snp | 1.00 | 0.99 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.036 | 12 | 92782070 | missense variant | A/T | snp | 1.1E-02 | 2.8E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 1.000 | 0.036 | 3 | 170999732 | intron variant | T/A | snp | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.036 | 22 | 36281936 | 3 prime UTR variant | G/A,T | snp | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.036 | 12 | 120978923 | missense variant | G/C | snp | 2.0E-04 | 8.3E-04 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.036 | 13 | 27924267 | missense variant | G/A,T | snp | 2.1E-04; 4.2E-06 | 3.8E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.036 | 21 | 34426752 | intergenic variant | T/C | snp | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.036 | 1 | 162071088 | intron variant | C/T | snp | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.036 | 18 | 60362833 | intergenic variant | T/A | snp | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.036 | 18 | 60388386 | intergenic variant | A/T | snp | 6.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.036 | 5 | 75359673 | non coding transcript exon variant | T/G | snp | 3.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.036 | 3 | 57272583 | 3 prime UTR variant | C/A | snp | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.036 | 20 | 45932640 | T/C | snp | 1.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.036 | 13 | 27920235 | missense variant | C/A,G,T | snp | 2.6E-03; 3.4E-04; 5.6E-05 | 1.1E-03; 1.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.036 | 1 | 162364200 | 5 prime UTR variant | A/G | snp | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.036 | 1 | 26911982 | missense variant | G/A | snp | 6.0E-05 | 6.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 1.000 | 0.036 | 3 | 186853121 | synonymous variant | G/A | snp | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |