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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.030 | 0.667 | 3 | 1996 | 1998 | |||
|
4 | 0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.333 | 3 | 1999 | 2003 | |||||
|
1 | 1.000 | 0.080 | 11 | 1558231 | missense variant | G/A | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.080 | 7 | 136976653 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 5 | 71719676 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 12 | 13866194 | synonymous variant | C/T | snv | 4.9E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.120 | 12 | 13865843 | synonymous variant | G/C;T | snv | 0.41; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.160 | 11 | 35306201 | synonymous variant | C/T | snv | 0.23 | 0.22 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
8 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 12 | 13563704 | missense variant | G/A;T | snv | 0.40; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.160 | 7 | 136958947 | intron variant | C/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 12 | 13563041 | synonymous variant | A/G | snv | 0.13 | 0.17 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.790 | 0.200 | 12 | 13561247 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.160 | 19 | 9298599 | intron variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 2 | 51821024 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 9 | 21504204 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |