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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 7 | 100393925 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 19 | 1031439 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 16 | 10491493 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.040 | 7 | 105115879 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||
|
6 | 0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.160 | 12 | 111694806 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.700 | 1.000 | 3 | 2012 | 2017 | |||
|
4 | 0.851 | 0.040 | 10 | 122456049 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 10 | 122467114 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 1 | 175376466 | intron variant | -/AGAGT | ins | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.040 | 1 | 196411028 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 1 | 196644043 | intergenic variant | T/C | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.040 | 1 | 196687934 | intron variant | T/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.080 | 1 | 196735502 | intron variant | C/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 1 | 196737512 | synonymous variant | C/T | snv | 1.0E-02 | 8.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 1 | 196846320 | upstream gene variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 1 | 196989521 | intron variant | C/G;T | snv | 4.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 2 | 227222204 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |