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 | 11 | 56698623 | intergenic variant | C/T | snp | 0.57 | 0.700 | 1 | 2007 | 2007 | |||||||
|
12 | 1.000 | 0.071 | 6 | 135097497 | intron variant | C/T | snp | 4.4E-02; 3.2E-05 | 0.800 | 6 | 2009 | 2013 | |||||
|
4 | 1.000 | 16 | 259156 | intron variant | C/A | snp | 0.18 | 0.800 | 4 | 2009 | 2017 | ||||||
|
5 | 6 | 25842723 | intron variant | T/G | snp | 3.9E-02 | 0.800 | 4 | 2009 | 2017 | |||||||
|
7 | 22 | 37074184 | intron variant | T/C | snp | 0.61 | 0.800 | 4 | 2009 | 2017 | |||||||
|
12 | 0.846 | 0.143 | 22 | 37073551 | synonymous variant | G/A,C | snp | 0.53; 4.0E-06 | 0.59 | 0.800 | 4 | 2009 | 2012 | ||||
|
4 | 9 | 4856877 | intron variant | G/A | snp | 0.17 | 0.800 | 3 | 2009 | 2017 | |||||||
|
5 | 19 | 12890733 | regulatory region variant | A/G | snp | 0.30 | 0.800 | 3 | 2009 | 2017 | |||||||
|
2 | 3 | 196082268 | regulatory region variant | G/A | snp | 0.30 | 0.800 | 3 | 2009 | 2017 | |||||||
|
15 | 6 | 135097778 | intron variant | A/G | snp | 0.26 | 0.800 | 3 | 2009 | 2017 | |||||||
|
5 | 6 | 41957421 | intron variant | G/A,C | snp | 0.18 | 0.800 | 3 | 2009 | 2017 | |||||||
|
5 | 22 | 37071352 | intron variant | G/A,C | snp | 0.48 | 0.800 | 2 | 2009 | 2012 | |||||||
|
2 | 6 | 139517282 | intergenic variant | C/A | snp | 0.40 | 0.800 | 2 | 2009 | 2012 | |||||||
|
26 | 0.715 | 0.393 | 22 | 37066896 | missense variant | A/G,T | snp | 0.57; 4.0E-06 | 0.65 | 0.800 | 6 | 2010 | 2017 | ||||
|
7 | 4 | 54528005 | intergenic variant | C/T | snp | 0.18 | 0.800 | 4 | 2010 | 2017 | |||||||
|
6 | 6 | 41937537 | intron variant | G/A,T | snp | 0.21 | 0.800 | 3 | 2010 | 2012 | |||||||
|
3 | 1 | 198626376 | intergenic variant | G/A,C,T | snp | 6.7E-02 | 0.700 | 2 | 2010 | 2017 | |||||||
|
5 | 9 | 4844265 | intron variant | T/C | snp | 0.20 | 0.800 | 2 | 2010 | 2012 | |||||||
|
4 | 10 | 45459616 | intron variant | C/T | snp | 7.5E-02 | 0.800 | 2 | 2010 | 2012 | |||||||
|
4 | 22 | 50528485 | non coding transcript exon variant | T/C,G | snp | 0.61; 8.2E-06 | 0.55 | 0.800 | 2 | 2010 | 2012 | ||||||
|
4 | 3 | 196180782 | regulatory region variant | T/C | snp | 0.12 | 0.800 | 2 | 2010 | 2012 | |||||||
|
5 | 6 | 139512875 | intergenic variant | T/G | snp | 0.55 | 0.800 | 2 | 2010 | 2012 | |||||||
|
3 | 15 | 65759007 | intron variant | C/G,T | snp | 0.57 | 0.800 | 2 | 2010 | 2012 | |||||||
|
4 | 10 | 46002468 | intron variant | C/T | snp | 9.6E-02 | 0.700 | 2 | 2010 | 2017 | |||||||
|
4 | 3 | 24309320 | intron variant | A/G | snp | 0.70 | 0.800 | 2 | 2010 | 2012 |