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 | 0.080 | 12 | 32825503 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 80384583 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 110807458 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 22 | 25768112 | splice region variant | C/G;T | snv | 8.7E-06; 0.54 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 1953015 | missense variant | G/A | snv | 2.5E-02 | 2.5E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 4 | 110719897 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 51069367 | intergenic variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 110787131 | intergenic variant | C/A | snv | 0.19 | 0.810 | 1.000 | 2 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.080 | 4 | 110815726 | intergenic variant | A/T | snv | 5.6E-02 | 0.710 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 14 | 32455299 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 5 | 128854670 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 138084300 | intron variant | C/T | snv | 0.13 | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2018 | |||
|
1 | 1.000 | 0.080 | 4 | 110791276 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.080 | 16 | 73019123 | intron variant | T/A | snv | 0.21 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 65052671 | non coding transcript exon variant | T/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 14 | 64213242 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 21 | 34746814 | intron variant | T/G | snv | 9.5E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 56712154 | downstream gene variant | A/C | snv | 0.80 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 36679512 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 18209878 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 11642399 | upstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 170600176 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 4 | 110789885 | upstream gene variant | T/C | snv | 0.19 | 0.720 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 123622957 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 154741530 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 2 | 2018 | 2018 |