| 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 | 1.000 | 0.040 | 7 | 88301614 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
4 | 1.000 | 0.040 | 11 | 116655605 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 81571913 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 95596501 | 5 prime UTR variant | T/C;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 118086902 | upstream gene variant | C/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 4 | 148126966 | intron variant | G/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 14 | 51489516 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 11 | 116763231 | missense variant | G/A | snv | 6.4E-02 | 4.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 9867065 | 3 prime UTR variant | G/C | snv | 0.19; 5.6E-05 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 125594988 | 5 prime UTR variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 7817996 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 113089594 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 11 | 92947847 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 11 | 47253513 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 7659861 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 116896183 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 202956690 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 12 | 112212323 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 18 | 47900264 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 4 | 148182095 | intron variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 118086607 | upstream gene variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 92502602 | intron variant | T/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 116913976 | intron variant | T/C | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |