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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1997 | 2018 | |||||
|
5 | 0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 226885618 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
6 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 1 | 226891284 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 226885596 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 1 | 226883748 | missense variant | G/A | snv | 8.6E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 1.000 | 0.080 | 2 | 109129746 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 106898231 | non coding transcript exon variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 4 | 185662115 | missense variant | C/G;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 185626897 | missense variant | C/G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 6 | 33662534 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 9 | 14146790 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.100 | 1.000 | 14 | 1996 | 2019 | |||||
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.100 | 1.000 | 10 | 1997 | 2019 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.090 | 1.000 | 9 | 1997 | 2013 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.050 | 1.000 | 5 | 2000 | 2017 | |||
|
6 | 0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv | 0.050 | 1.000 | 5 | 1998 | 2018 | |||||
|
4 | 0.851 | 0.080 | 14 | 73219188 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 |