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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 16 | 31014320 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 45175530 | intergenic variant | C/- | del | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 160298561 | intergenic variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 30126692 | upstream gene variant | TT/-;T;TTT;TTTT;TTTTTT;TTTTTTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 18 | 60185354 | intergenic variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 18 | 60215554 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 18 | 60181136 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 83273934 | intergenic variant | A/G | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 177909798 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 18 | 60183189 | intergenic variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 17 | 55246111 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 18 | 60346332 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 2 | 466003 | intergenic variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 2 | 59080590 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 2 | 635721 | intergenic variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 180507117 | regulatory region variant | A/G | snv | 3.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 112521309 | regulatory region variant | G/A | snv | 4.9E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 51316620 | intron variant | C/T | snv | 5.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 25941129 | intergenic variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 0.925 | 0.120 | 18 | 60191596 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 18 | 60194430 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 6 | 50898107 | non coding transcript exon variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 15 | 83922158 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 16 | 3971733 | intron variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2015 | 2015 |