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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.914 | 58 | 1998 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2006 | 2018 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1995 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.040 | 1.000 | 4 | 2005 | 2018 | |||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.030 | 1.000 | 3 | 2009 | 2014 | |||
|
6 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.020 | 0.500 | 2 | 2002 | 2015 | ||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 147468451 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1 | 112500200 | intron variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.080 | 1 | 115113069 | regulatory region variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.925 | 0.120 | 1 | 94531732 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 1 | 11046616 | missense variant | G/A | snv | 6.5E-04 | 6.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 7982766 | intron variant | G/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.925 | 0.120 | 1 | 7940737 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.120 | 1 | 56497149 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |