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 | 11 | 108281855 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 5 | 111065770 | upstream gene variant | A/C | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 15 | 51321614 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 83362752 | intergenic variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 75542076 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 7 | 30504681 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 14 | 50809291 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 217006626 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 7 | 90413990 | 3 prime UTR variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 56857565 | intron variant | T/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 38080501 | intron variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 16 | 69711027 | synonymous variant | A/G | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 8 | 140516886 | 3 prime UTR variant | G/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 7 | 99478208 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 7 | 99598450 | intron variant | T/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 7 | 151578720 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 20 | 52408842 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 |