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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 22 | 40256869 | intron variant | A/G | snv | 0.19 | 0.820 | 1.000 | 3 | 2011 | 2018 | |||||
|
2 | 1.000 | 6 | 152241136 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 1.000 | 13 | 40149807 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 1.000 | 11 | 108444879 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 17 | 82209113 | intron variant | G/T | snv | 0.46 | 0.710 | 1.000 | 2 | 2012 | 2016 | ||||||
|
2 | 1.000 | 10 | 103954641 | intergenic variant | C/T | snv | 7.0E-02 | 0.810 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 1.000 | 10 | 31679855 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 16 | 65949614 | intergenic variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 9 | 680714 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 32348834 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11562535 | missense variant | A/C | snv | 0.54 | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 9 | 804886 | intergenic variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 12 | 70756878 | intron variant | T/C | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 210899 | non coding transcript exon variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 213723 | non coding transcript exon variant | T/G | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 6 | 34209733 | intergenic variant | T/A | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 6 | 151880688 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
2 | 1.000 | 8 | 4584258 | intron variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 11 | 32305471 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | X | 132180234 | intergenic variant | T/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40307071 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 69735020 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 17 | 7796745 | intron variant | C/T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 108278480 | intron variant | T/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 48034600 | intron variant | T/C | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 |