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 | 10 | 99828664 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 7 | 99788078 | upstream gene variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 99596167 | intron variant | C/T | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 99302913 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 9 | 99132990 | intron variant | C/T | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 9 | 99105926 | intron variant | C/G | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 99093654 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
2 | 9 | 98325004 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
2 | 13 | 95205263 | intron variant | G/T | snv | 3.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 94336456 | intron variant | C/G | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 94308312 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 93396463 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1 | 93352389 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 1 | 93350843 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 | 0.800 | 1.000 | 2 | 2013 | 2019 | |||||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.800 | 1.000 | 3 | 2013 | 2019 | |||||
|
5 | 0.925 | 0.040 | 8 | 9327181 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 3 | 2011 | 2019 | ||||
|
5 | 0.882 | 0.040 | 8 | 9326721 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 6 | 2015 | 2019 | ||||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 93169033 | intron variant | C/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 10 | 93079967 | downstream gene variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2019 |