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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.642 | 0.464 | 4 | 88131171 | missense variant | G/C,T | snp | 4.0E-06; 0.12 | 9.4E-02 | 0.800 | 10 | 2008 | 2016 | ||||
|
3 | 1.000 | 0.036 | 4 | 9920543 | missense variant | C/T | snp | 0.24 | 0.26 | 0.800 | 8 | 2008 | 2016 | ||||
|
3 | 1.000 | 0.107 | 4 | 9925343 | intron variant | T/G | snp | 0.37 | 0.800 | 7 | 2009 | 2016 | |||||
|
2 | 1.000 | 0.107 | 4 | 9993558 | intron variant | G/A,C | snp | 0.72 | 0.800 | 7 | 2009 | 2016 | |||||
|
3 | 1.000 | 0.071 | 4 | 9992591 | intron variant | C/T | snp | 0.84 | 0.800 | 7 | 2009 | 2017 | |||||
|
2 | 4 | 9914117 | intron variant | C/T | snp | 0.32 | 0.800 | 6 | 2009 | 2014 | |||||||
|
3 | 4 | 9933120 | intron variant | G/A,T | snp | 1.3E-04; 0.31 | 0.800 | 6 | 2008 | 2016 | |||||||
|
3 | 4 | 9964756 | intron variant | A/G | snp | 0.25 | 0.800 | 6 | 2008 | 2013 | |||||||
|
2 | 1.000 | 0.107 | 4 | 88169725 | intron variant | T/C,G | snp | 0.58; 3.2E-05 | 0.800 | 5 | 2009 | 2015 | |||||
|
1 | 4 | 9918723 | intron variant | T/C | snp | 0.50 | 0.800 | 5 | 2009 | 2016 | |||||||
|
63 | 0.667 | 0.321 | 2 | 27508073 | missense variant | T/C | snp | 0.63; 4.0E-06 | 0.67 | 0.800 | 5 | 2009 | 2016 | ||||
|
1 | 4 | 88107623 | intron variant | A/G | snp | 8.1E-02 | 0.800 | 5 | 2009 | 2018 | |||||||
|
1 | 11 | 64566642 | non coding transcript exon variant | C/T | snp | 0.36 | 0.800 | 5 | 2009 | 2016 | |||||||
|
1 | 4 | 88054586 | intron variant | T/C | snp | 8.2E-02 | 0.800 | 5 | 2009 | 2018 | |||||||
|
2 | 1.000 | 0.036 | 4 | 88143429 | intron variant | A/C | snp | 0.48 | 0.800 | 5 | 2009 | 2014 | |||||
|
1 | 4 | 88133515 | intron variant | A/G | snp | 9.2E-02 | 0.800 | 5 | 2009 | 2013 | |||||||
|
2 | 4 | 10329670 | intergenic variant | T/G | snp | 0.20 | 0.800 | 5 | 2009 | 2013 | |||||||
|
1 | 4 | 9922695 | intron variant | A/G | snp | 0.73 | 0.800 | 5 | 2009 | 2013 | |||||||
|
4 | 1.000 | 0.036 | 4 | 9934286 | intron variant | A/G | snp | 0.31 | 0.800 | 5 | 2007 | 2013 | |||||
|
6 | 0.878 | 0.214 | 4 | 9921380 | intron variant | G/A,T | snp | 0.70 | 0.800 | 5 | 2009 | 2013 | |||||
|
1 | 4 | 9983972 | intron variant | G/A | snp | 0.82 | 0.800 | 5 | 2009 | 2016 | |||||||
|
44 | 0.699 | 0.286 | 2 | 27518370 | intron variant | T/C | snp | 0.67 | 0.800 | 5 | 2009 | 2016 | |||||
|
1 | 11 | 64593233 | intron variant | C/T | snp | 0.50 | 0.800 | 4 | 2009 | 2016 | |||||||
|
3 | 6 | 25818538 | intron variant | A/C,G,T | snp | 0.67 | 0.800 | 4 | 2009 | 2016 | |||||||
|
3 | 6 | 25812922 | missense variant | G/A | snp | 0.62 | 0.67 | 0.800 | 4 | 2009 | 2016 |