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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 6 | 108620265 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
8 | 0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 7 | 87544938 | missense variant | G/C;T | snv | 4.0E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.120 | 22 | 43001030 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 10 | 101137330 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 1 | 11787277 | 3 prime UTR variant | -/AGA | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 7 | 99762071 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.120 | 9 | 21971990 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 1 | 11787702 | 3 prime UTR variant | C/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 8 | 63039169 | upstream gene variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 11 | 8248697 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 20 | 3213196 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 8 | 16177793 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 12 | 21267537 | 3 prime UTR variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 8254288 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 11 | 8242602 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 7 | 99668695 | 3 prime UTR variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 10 | 22194082 | intergenic variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 11 | 118487353 | intron variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 21 | 45525868 | synonymous variant | G/T | snv | 5.3E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
5 | 0.851 | 0.120 | 20 | 51419700 | intron variant | A/T | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 9 | 134850278 | non coding transcript exon variant | G/A;C;T | snv | 0.58; 4.4E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 7 | 22147337 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 11 | 118534089 | synonymous variant | G/A | snv | 0.30 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 |