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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 2 | 218439407 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 26061368 | regulatory region variant | A/G | snv | 0.17 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
4 | 5 | 173965395 | downstream gene variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 143221248 | downstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 29502788 | intergenic variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 65048915 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||
|
2 | 8 | 19964304 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 19970337 | downstream gene variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 8 | 20070649 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 8 | 10156645 | intron variant | G/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 9 | 104898869 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 9 | 134415237 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 230160042 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 14 | 54889676 | intron variant | C/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.080 | 2 | 164651879 | downstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 2 | 101025798 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 85333439 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 202554561 | intron variant | A/G | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 155207180 | non coding transcript exon variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 7 | 73487060 | intron variant | A/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 50280211 | upstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 7 | 106258428 | intron variant | C/T | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |