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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.120 | 9 | 93125038 | missense variant | G/T | snv | 0.81 | 0.77 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 114730737 | intergenic variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.120 | 8 | 6870594 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 31297135 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 6 | 32551228 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 6 | 31287647 | non coding transcript exon variant | A/C;T | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 8 | 89811459 | intergenic variant | A/G | snv | 0.58 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 32605852 | intergenic variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.040 | 6 | 31273211 | intron variant | T/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 6 | 31303824 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 32603062 | intergenic variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 6 | 32615965 | regulatory region variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 6 | 32641349 | missense variant | T/A;C | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.160 | 8 | 89766285 | intron variant | G/A | snv | 0.60 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.120 | 16 | 50685192 | upstream gene variant | T/C | snv | 0.68 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 35254508 | intergenic variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 |