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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 2 | 8731746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.807 | 0.200 | 6 | 31422007 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 2 | 8813255 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 1 | 107035210 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 0.925 | 0.120 | 6 | 31133165 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 7 | 137519073 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
13 | 0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 19 | 17403506 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
10 | 0.807 | 0.280 | 6 | 30070870 | 3 prime UTR variant | T/C;G | snv | 5.2E-02; 7.2E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.851 | 0.200 | 6 | 31834764 | non coding transcript exon variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 6 | 28662914 | intergenic variant | G/A | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 6 | 29063365 | intron variant | C/A | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.160 | 6 | 29374998 | missense variant | G/A | snv | 5.5E-02 | 5.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.280 | 6 | 30311353 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 6 | 28869660 | intergenic variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 6 | 28744886 | intergenic variant | A/G | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 |