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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||
|
6 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2008 | 2016 | |||||
|
2 | 1.000 | 0.040 | 16 | 56983750 | 3 prime UTR variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||
|
2 | 16 | 56966372 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||
|
7 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.800 | 1.000 | 5 | 2007 | 2019 | ||||
|
7 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
2 | 0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 | 0.800 | 1.000 | 4 | 2008 | 2019 | |||
|
6 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||||
|
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 | |||
|
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 | |||
|
2 | 16 | 56969234 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
2 | 16 | 56978467 | intron variant | T/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2019 | ||||||
|
4 | 16 | 56966973 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2019 |