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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 16 | 87457213 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 16 | 87407442 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 17 | 7459769 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 5 | 111524099 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 30212752 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 9 | 89013167 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 9 | 89110472 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89160966 | intron variant | C/G;T | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89079205 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89149212 | intron variant | T/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89054447 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89042048 | synonymous variant | T/A;C | snv | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89065616 | intron variant | C/G | snv | 0.76 | 0.64 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 9 | 89153733 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89045243 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 3 | 49368647 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 15 | 78552014 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 22 | 38143034 | non coding transcript exon variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 186830478 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.030 | 0.667 | 3 | 2011 | 2017 |