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 | 0.925 | 0.080 | 18 | 22610832 | intergenic variant | G/A | snv | 0.86 | 0.880 | 0.778 | 9 | 2010 | 2016 | ||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.060 | 1.000 | 6 | 2010 | 2017 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.050 | 1.000 | 5 | 2011 | 2020 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342641 | intron variant | G/A | snv | 0.18 | 0.830 | 0.800 | 5 | 2012 | 2016 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.050 | 0.600 | 5 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 130240512 | intron variant | A/G | snv | 0.37 | 0.040 | 0.250 | 4 | 2015 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.040 | 1.000 | 4 | 2018 | 2020 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 0.750 | 4 | 2015 | 2020 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.040 | 0.750 | 4 | 2014 | 2020 | ||||
|
1 | 1.000 | 0.040 | 8 | 130284521 | intron variant | A/C | snv | 0.29 | 0.740 | 1.000 | 4 | 2015 | 2019 | ||||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.040 | 1.000 | 4 | 2008 | 2014 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
9 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.160 | 4 | 38805206 | 5 prime UTR variant | G/A | snv | 0.14 | 0.030 | 1.000 | 3 | 2018 | 2019 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.040 | 8 | 41302340 | intron variant | C/T | snv | 1.0E-01 | 0.030 | 1.000 | 3 | 2014 | 2016 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
6 | 0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2019 | 2020 | |||||
|
11 | 0.763 | 0.360 | 17 | 35880776 | 5 prime UTR variant | C/T | snv | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2013 |