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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 9753094 | 3 prime UTR variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 10 | 6045332 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 16 | 11243864 | downstream gene variant | G/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 20 | 46095024 | upstream gene variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 9109909 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 3 | 27747289 | intergenic variant | C/T | snv | 0.39 | 0.810 | 1.000 | 2 | 2011 | 2018 | ||||
|
3 | 0.882 | 0.160 | 6 | 135418217 | intron variant | C/A | snv | 0.28 | 0.810 | 1.000 | 3 | 2011 | 2018 | ||||
|
3 | 0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 6075359 | upstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 61008833 | frameshift variant | -/T | ins | 5.1E-06; 5.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 29670324 | missense variant | T/A;C | snv | 5.7E-04; 2.8E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 1 | 198861813 | intron variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 3 | 119503609 | stop lost | G/C | snv | 0.18 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.160 | 3 | 119431989 | missense variant | C/T | snv | 0.12 | 0.11 | 0.710 | 0.500 | 2 | 2011 | 2012 | |||
|
1 | 1.000 | 0.080 | 12 | 112931911 | frameshift variant | A/- | del | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.160 | 3 | 184137637 | missense variant | G/A | snv | 2.1E-04 | 2.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |