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 | ||||||
|
1 | 1 | 26539480 | intron variant | T/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 163324702 | 3 prime UTR variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 116851110 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 116851325 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 5 | 173965395 | downstream gene variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 75502331 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
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 | 6 | 2009 | 2019 | ||||
|
2 | 8 | 71495139 | intron variant | G/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 8 | 19970337 | downstream gene variant | C/A | snv | 0.42 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 8 | 20070649 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 16597467 | intron variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 | 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 | ||||||
|
1 | 9 | 134407131 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 230160042 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 61717464 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 86311359 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-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 | 2 | 2018 | 2018 | ||||
|
4 | 2 | 101025798 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2009 | 2009 |