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 | 16 | 56976020 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 56976029 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56983884 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 16 | 56984190 | downstream gene variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 16 | 56977540 | non coding transcript exon variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56963457 | intron variant | A/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56961126 | upstream gene variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56980963 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 16 | 56966037 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 16 | 56965346 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56975857 | intron variant | T/A | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56978024 | non coding transcript exon variant | C/T | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56973280 | intron variant | T/C | snv | 5.9E-02 | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||
|
2 | 0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||
|
2 | 1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 | 0.800 | 1.000 | 2 | 2012 | 2019 | |||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
3 | 16 | 56977273 | non coding transcript exon variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
4 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2012 | |||
|
8 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
3 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||
|
6 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2008 | 2016 | |||||
|
3 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
7 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 4 | 2009 | 2019 |