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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 31107598 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.827 | 0.080 | 9 | 97787746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
24 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||
|
2 | 0.851 | 0.080 | 9 | 97860315 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 9 | 97874116 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 31058212 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107823394 | intron variant | T/C | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107727331 | intron variant | A/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107793911 | intron variant | A/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 107809190 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31058232 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 18 | 6567183 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 97781598 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31084907 | downstream gene variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31084350 | downstream gene variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31080610 | upstream gene variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 6 | 31094356 | regulatory region variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 |