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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.900 | 1.000 | 39 | 1993 | 2016 | ||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.890 | 1.000 | 40 | 1993 | 2014 | |||||
|
12 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 0.810 | 1.000 | 24 | 1993 | 2012 | |||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.800 | 1.000 | 20 | 1993 | 2009 | |||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2002 | 2009 | |||||
|
15 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
11 | 0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv | 0.890 | 0.969 | 32 | 1993 | 2012 | |||||
|
9 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
7 | 0.807 | 0.120 | 21 | 31659783 | missense variant | C/T | snv | 3.6E-05 | 0.830 | 1.000 | 36 | 1993 | 2012 | ||||
|
6 | 0.807 | 0.120 | 21 | 31667271 | missense variant | T/C;G | snv | 4.0E-06 | 0.810 | 1.000 | 24 | 1993 | 2012 | ||||
|
6 | 0.807 | 0.120 | 6 | 159692661 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.870 | 1.000 | 30 | 1993 | 2013 | |||||
|
7 | 0.827 | 0.120 | 21 | 31663841 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 23 | 1993 | 2012 | ||||
|
5 | 0.827 | 0.200 | 2 | 74378104 | missense variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||
|
5 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 10 | 92524312 | intron variant | T/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.080 | 1 | 7032722 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.080 | 17 | 28283226 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 17 | 28392769 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 9 | 27543384 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 16 | 31191431 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 21 | 31667298 | missense variant | G/A;C;T | snv | 0.820 | 1.000 | 25 | 1993 | 2017 | |||||
|
4 | 0.851 | 0.080 | 21 | 31667320 | missense variant | A/G | snv | 0.810 | 1.000 | 24 | 1993 | 2012 |