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 | 0.120 | 20 | 33237991 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 10 | 133543735 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 13 | 23553071 | intergenic variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 29708939 | upstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29710175 | upstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 37474042 | intron variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 37465958 | intron variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 55001811 | intron variant | A/G | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 37481337 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 3 | 49902693 | missense variant | C/G;T | snv | 1.8E-04; 3.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 34997659 | non coding transcript exon variant | T/C | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 37475971 | intron variant | C/T | snv | 0.34 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 3 | 50296800 | missense variant | T/A;G | snv | 0.13 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.120 | 1 | 206935771 | missense variant | C/G;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 12 | 75502884 | 3 prime UTR variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 19 | 6754996 | synonymous variant | T/C | snv | 0.30 | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 2 | 88859459 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 2 | 88857435 | missense variant | C/G | snv | 0.14 | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.120 | 16 | 89689495 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 2 | 54977988 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 1300469 | intergenic variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 1 | 206933133 | missense variant | G/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 2 | 55080901 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 6 | 29639652 | upstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29952759 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |