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 | 0.882 | 0.120 | 17 | 73014881 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
20 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
9 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 0.760 | 1.000 | 9 | 2008 | 2015 | |||||
|
3 | 0.882 | 0.120 | 22 | 25588025 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 22 | 32800707 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2014 | ||||
|
7 | 0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2003 | 2017 | |||||
|
3 | 0.882 | 0.120 | 8 | 41311757 | upstream gene variant | T/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.200 | 7 | 106249610 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.120 | 7 | 148808210 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2010 | 2015 | |||||
|
14 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.080 | 1.000 | 8 | 2009 | 2014 | |||
|
3 | 0.882 | 0.120 | 14 | 103706470 | 3 prime UTR variant | C/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 1 | 150966095 | 3 prime UTR variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 6 | 43755598 | intergenic variant | A/C | snv | 0.88 | 0.040 | 1.000 | 4 | 2007 | 2019 | ||||
|
12 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
16 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 | 0.720 | 1.000 | 3 | 2010 | 2014 |