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 | 9 | 4594919 | intron variant | C/G | snv | 0.72 | 0.050 | 0.800 | 5 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 4564432 | synonymous variant | G/A | snv | 0.39 | 0.35 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
1 | 1.000 | 0.040 | 9 | 4482706 | intergenic variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 11 | 27719545 | 5 prime UTR variant | G/A | snv | 0.40 | 0.020 | 1.000 | 2 | 2014 | 2020 | ||||
|
1 | 1.000 | 0.040 | 9 | 4572480 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 118939624 | upstream gene variant | C/A | snv | 6.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 184038034 | missense variant | G/A;C;T | snv | 0.66; 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 18 | 28070318 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 15 | 50660473 | intron variant | T/C | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 89349373 | intergenic variant | T/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 18 | 28171702 | intron variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 1895465 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 184100530 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 4574022 | splice region variant | A/C | snv | 0.11 | 8.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 21 | 33029069 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 6 | 101885466 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 83880256 | missense variant | T/A | snv | 1.3E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 6 | 101869470 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 222801584 | intergenic variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 59440374 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 59237566 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 77457228 | downstream gene variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 18 | 27985092 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 18 | 73963859 | intron variant | T/C | snv | 0.19 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 77817693 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 |