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 | 169521154 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 207108804 | intron variant | C/A;G | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 8 | 105578478 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
1 | 1 | 169382306 | intron variant | A/C;G | snv | 5.9E-03; 6.2E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 8 | 10147444 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 25928927 | intron variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 175547573 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 17 | 2063163 | 3 prime UTR variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 51844533 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 171724227 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 9278630 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 35187566 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170885468 | intron variant | C/T | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 123323526 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 186297569 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 14 | 58377808 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 64970119 | downstream gene variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170254627 | intron variant | T/C | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 76625137 | intron variant | C/T | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 168741790 | intron variant | C/A;T | snv | 6.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 3193201 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 18424258 | 5 prime UTR variant | A/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 5819886 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 23187889 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 63490971 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |