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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 1 | 145711327 | upstream gene variant | T/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
5 | 0.882 | 0.160 | 1 | 145711421 | upstream gene variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2009 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 145711946 | upstream gene variant | T/G | snv | 0.44 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 145744615 | 3 prime UTR variant | G/A;C | snv | 0.27 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1 | 145707383 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1 | 28271776 | missense variant | C/T | snv | 2.2E-03 | 8.6E-04 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
1 | 1 | 15582985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 43595361 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 156843858 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 150623061 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 150689703 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 220864835 | intron variant | A/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 1 | 145709377 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1 | 155752715 | intron variant | C/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 236307434 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.120 | 1 | 145927447 | 5 prime UTR variant | C/A;T | snv | 4.2E-06; 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 119400902 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 50374068 | intergenic variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 2225560 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 163706152 | regulatory region variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 93211712 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 211910170 | regulatory region variant | G/A | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |