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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.807 | 0.200 | 17 | 30237299 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 77250689 | synonymous variant | T/C | snv | 0.57 | 0.57 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 13 | 46846177 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 25161964 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 25173143 | upstream gene variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.080 | 15 | 78566058 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 5 | 79496521 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 8 | 53253835 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 8 | 42756217 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 |