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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 1.000 | 10 | 2011 | 2018 | |||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2020 | |||||
|
2 | 1.000 | 0.040 | 2 | 57995793 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 17 | 48763179 | intron variant | T/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 231563728 | intron variant | G/C | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 1.000 | 0.040 | 14 | 50980053 | intron variant | T/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 12 | 72032174 | 3 prime UTR variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 2 | 102959630 | intron variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.040 | 18 | 55481790 | intron variant | A/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 18 | 55527730 | intron variant | T/C | snv | 2.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 16 | 29977620 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.925 | 0.040 | 9 | 92060258 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 20 | 19232246 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.827 | 0.160 | 14 | 104766758 | intron variant | C/A;T | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.925 | 0.080 | 22 | 50721469 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 11 | 18244252 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 1.000 | 0.040 | 22 | 20241019 | downstream gene variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 7 | 20828189 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 20 | 19870811 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 19871859 | non coding transcript exon variant | G/A | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 25070680 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2010 | 2010 |