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 | 0.080 | 5 | 91367022 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 5 | 53298177 | non coding transcript exon variant | A/G | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 80384570 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 113368732 | regulatory region variant | T/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 29509637 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 36684381 | missense variant | C/T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.080 | 18 | 27025475 | intron variant | G/A;T | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 69207095 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 226362236 | intergenic variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 20 | 53671071 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 22 | 40143521 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 4 | 53046426 | intron variant | G/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 32581080 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 105346392 | intron variant | A/T | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 56899963 | downstream gene variant | A/G | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 79092621 | intron variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 68200005 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68201782 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68201811 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68205986 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68206362 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68206400 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68206609 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 68206672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 14 | 68207127 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 |