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 | 7 | 50498129 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 47121125 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 3 | 47123960 | missense variant | G/A;C | snv | 5.0E-05; 1.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 50414314 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 50497706 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50479227 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 6 | 18121083 | 3 prime UTR variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 22551654 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50410929 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 77367618 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 50499737 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 50456510 | intron variant | C/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50351251 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 23113360 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 14761602 | missense variant | G/T | snv | 1.9E-03 | 5.2E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 2 | 200157231 | intergenic variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 39805581 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 50501717 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50482161 | intron variant | T/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 189683987 | intron variant | G/C | snv | 9.7E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 56408195 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 94573377 | missense variant | C/T | snv | 1.0E-04 | 1.3E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 9 | 22006274 | intron variant | G/A;C;T | snv | 4.4E-06; 4.4E-06; 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 15 | 92114143 | intron variant | T/A;C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 21445779 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 |