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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 6 | 33092651 | intron variant | C/T | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 33093063 | non coding transcript exon variant | C/G | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 1.000 | 5 | 2002 | 2010 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
1 | 1.000 | 0.040 | 6 | 32183445 | splice region variant | G/A | snv | 0.24 | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.320 | 6 | 31382927 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 6 | 32070923 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 6 | 32062507 | intron variant | G/A | snv | 0.33 | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
10 | 0.807 | 0.240 | 6 | 31479019 | downstream gene variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.200 | 6 | 31513749 | upstream gene variant | G/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | 6 | 31513522 | upstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.882 | 0.160 | 6 | 31482217 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 6 | 31392612 | downstream gene variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | 6 | 31458208 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 6 | 31515638 | upstream gene variant | C/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 |