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 | 14 | 102875712 | missense variant | T/C | snv | 0.32 | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 10 | 102876519 | intron variant | C/A;T | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 103013607 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 10 | 103109281 | intron variant | T/C | snv | 8.4E-02 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 11 | 103217685 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 103264318 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 103312976 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 2 | 103419975 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 13 | 103438498 | intergenic variant | G/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 103440000 | downstream gene variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 103521843 | synonymous variant | G/T | snv | 0.66 | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 14 | 103683138 | non coding transcript exon variant | A/G | snv | 0.30 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
1 | 9 | 10369009 | intron variant | A/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 103692087 | intergenic variant | C/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 103776094 | intron variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 103777110 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 7 | 103778399 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 103804400 | intergenic variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 104345319 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 104369069 | intergenic variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 104369900 | intergenic variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 104597772 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 104611504 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 5 | 10463995 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 |