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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 5 | 170487960 | intron variant | C/T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 21 | 43056923 | intron variant | T/C | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
6 | 1.000 | 2 | 233688675 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | 2 | 28788221 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 6 | 31116511 | synonymous variant | T/C | snv | 0.57 | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 6 | 31115887 | 3 prime UTR variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 6 | 31115379 | 3 prime UTR variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 6 | 31277757 | non coding transcript exon variant | A/C;G;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 13 | 41459562 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 1.000 | 2 | 49264671 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 11 | 88708934 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 10 | 89981680 | intron variant | G/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.925 | 0.120 | 6 | 31411332 | missense variant | G/A | snv | 0.34 | 0.35 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.925 | 0.120 | 6 | 31353908 | 3 prime UTR variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.040 | 6 | 31116658 | synonymous variant | G/A | snv | 0.37 | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.882 | 8 | 64727703 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 1.000 | 6 | 30779439 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 1.000 | 6 | 30789798 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 6 | 31393708 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 1.000 | 6 | 31385912 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
7 | 0.851 | 0.040 | 14 | 22168978 | synonymous variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 11 | 62293877 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 |