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 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 67412637 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.120 | 22 | 28904318 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 40827064 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 12 | 11394598 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 130995762 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 75229763 | synonymous variant | G/A | snv | 5.1E-02 | 0.11 | 0.700 | 1.000 | 2 | 2014 | 2018 | |||
|
1 | 1.000 | 0.120 | 9 | 117306874 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 12 | 120990604 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 152798206 | intergenic variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 47248996 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 37717865 | intron variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 230727252 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 1 | 18351676 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 96970814 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 96947703 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 13 | 63564941 | intergenic variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 104125300 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 1 | 112503773 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 3 | 13029299 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 1226602 | synonymous variant | C/G;T | snv | 6.7E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.120 | 5 | 124688588 | intron variant | T/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 22 | 17833538 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 20 | 44458008 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 4 | 147474942 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |