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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
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 | ||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.800 | 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 | ||||
|
3 | 0.925 | 0.160 | 6 | 28744886 | intergenic variant | A/G | snv | 7.2E-02 | 0.700 | 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 | ||||
|
3 | 0.925 | 0.120 | 6 | 28662914 | intergenic variant | G/A | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 2 | 8731746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.807 | 0.240 | 6 | 31479019 | downstream gene variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.925 | 0.120 | 6 | 31464348 | non coding transcript exon variant | C/T | snv | 0.44 | 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 | |||
|
7 | 0.882 | 0.160 | 6 | 31482217 | intron variant | T/C | snv | 0.19 | 0.700 | 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 | |||||
|
6 | 0.925 | 0.120 | 6 | 31420437 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.882 | 0.160 | 6 | 31295974 | intron variant | T/C | snv | 0.20 | 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 | ||||
|
4 | 0.882 | 0.160 | 6 | 29063365 | intron variant | C/A | snv | 5.2E-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 | ||||
|
3 | 0.925 | 0.160 | 6 | 28869660 | intergenic variant | C/T | snv | 7.1E-02 | 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 | ||||||
|
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 |