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 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 11 | 203788 | 3 prime UTR variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 10 | 103954641 | intergenic variant | C/T | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 8 | 4584258 | intron variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 3 | 5306910 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 8 | 74207107 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 22 | 37332213 | regulatory region variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 6 | 152241136 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 22096228 | 3 prime UTR variant | G/A | snv | 0.14 | 0.700 | 1.000 | 2 | 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 | |||||
|
6 | 0.925 | 0.080 | 20 | 5967581 | missense variant | G/A | snv | 4.5E-02 | 4.2E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||
|
8 | 0.790 | 0.120 | 10 | 103920874 | upstream gene variant | T/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.120 | 13 | 40605661 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 2 | 11562535 | missense variant | A/C | snv | 0.54 | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 11 | 32343884 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 11 | 210899 | non coding transcript exon variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 1 | 22135618 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 22 | 40307071 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 |