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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.040 | 11 | 19188245 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 201365657 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.080 | 7 | 151564199 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.882 | 0.120 | 6 | 75857198 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.160 | 6 | 75841299 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.080 | 15 | 34791163 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 15 | 34793326 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.851 | 0.200 | 4 | 185145020 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 1.000 | 0.120 | 18 | 31595160 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.882 | 0.200 | 18 | 31592944 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
11 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |