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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 1 | 21568201 | missense variant | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21568193 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 21568123 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 21568122 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 21564188 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
4 | 0.851 | 0.080 | 1 | 21564139 | missense variant | G/A;C | snv | 2.4E-03; 4.0E-06 | 0.810 | 1.000 | 21 | 1992 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 21564118 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
2 | 0.925 | 0.080 | 1 | 21564110 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
2 | 0.925 | 0.080 | 1 | 21564103 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
3 | 0.882 | 0.080 | 1 | 21564097 | missense variant | G/A | snv | 1.3E-04 | 3.5E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 21564094 | missense variant | G/A;C | snv | 9.2E-05 | 0.800 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21564080 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21564053 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 21564052 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21563267 | missense variant | G/A | snv | 1.2E-02 | 8.6E-03 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 21563255 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 1 | 21563219 | missense variant | G/A;C | snv | 1.4E-04 | 0.800 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21563213 | missense variant | C/A | snv | 5.2E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 1 | 21563212 | missense variant | AC/CA | mnv | 0.800 | 1.000 | 20 | 1992 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 21563194 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 21563170 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.120 | 1 | 21563158 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2013 | |||||
|
3 | 0.882 | 0.120 | 1 | 21563153 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 1 | 21563143 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
3 | 0.882 | 0.160 | 1 | 21563135 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2013 |