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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 14 | 2010 | 2019 | ||||
|
4 | 1 | 109612066 | intron variant | T/C | snv | 4.6E-02 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||||
|
6 | 1.000 | 0.080 | 1 | 72285502 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||
|
2 | 1 | 96458541 | intergenic variant | C/T | snv | 0.48 | 0.700 | 1.000 | 6 | 2015 | 2019 | ||||||
|
1 | 1 | 190270777 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
2 | 1 | 74536509 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 4 | 2015 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
1 | 1 | 49124175 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
3 | 1 | 109540264 | intron variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 1 | 50094148 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
2 | 1 | 77981077 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||
|
2 | 1 | 78212446 | intergenic variant | A/G | snv | 0.32 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 1 | 77582646 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
2 | 1 | 62129005 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2019 | |||||
|
3 | 1 | 201815159 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||
|
2 | 1 | 47219005 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
1 | 1 | 197275160 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2009 | 2019 | ||||
|
1 | 1 | 107343656 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 1 | 39096955 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 243369971 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
5 | 1 | 62114219 | missense variant | G/A;T | snv | 4.0E-06; 5.9E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 1 | 74525960 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 2 | 2010 | 2013 |