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 | 0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 | 0.840 | 1.000 | 1 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 40386453 | regulatory region variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 0.810 | 1.000 | 2 | 2008 | 2014 | ||||
|
1 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 1 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 56143024 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 2 | 60997124 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv | 0.810 | 1.000 | 1 | 2007 | 2010 | |||||
|
10 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.810 | 1.000 | 1 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 29266733 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 7 | 26852821 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 172893799 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2010 | 2017 | ||||
|
1 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.800 | 0.917 | 1 | 2006 | 2017 | |||
|
1 | 1.000 | 0.040 | 5 | 40393503 | intergenic variant | A/C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 131373856 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.850 | 1.000 | 2 | 2008 | 2016 | |||||
|
2 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.810 | 1.000 | 1 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2012 | 2015 |