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 | 5 | 132663802 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 19 | 18082381 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 31269826 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 2327389 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 148697197 | upstream gene variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 1.000 | 0.040 | 16 | 28933075 | missense variant | C/G | snv | 0.72 | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 6 | 32717908 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 3 | 12218116 | intergenic variant | C/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 31138491 | non coding transcript exon variant | A/C;G | snv | 8.1E-06; 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 19 | 35345697 | synonymous variant | C/A;T | snv | 4.0E-02; 7.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 129011468 | intron variant | C/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 60470665 | 3 prime UTR variant | T/C | snv | 6.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 58389559 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 106129493 | intron variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 131557214 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 161638578 | intergenic variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 102615256 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 58410164 | splice region variant | C/G | snv | 0.15 | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 17 | 75378864 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 17 | 5652037 | intergenic variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 60464852 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 18 | 64135070 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 31028355 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 3 | 160015740 | non coding transcript exon variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 20 | 45980011 | upstream gene variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |