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 | 0.851 | 0.080 | 1 | 161306864 | missense variant | G/A | snv | 7.0E-06 | 0.820 | 1.000 | 30 | 1993 | 2019 | ||||
|
3 | 0.851 | 0.080 | 1 | 161307259 | missense variant | G/A;C | snv | 0.810 | 1.000 | 27 | 1993 | 2008 | |||||
|
7 | 0.827 | 0.200 | 1 | 161306863 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 25 | 1993 | 2010 | |||||
|
3 | 0.882 | 0.080 | 1 | 161306914 | missense variant | T/C | snv | 0.800 | 1.000 | 23 | 1993 | 2011 | |||||
|
2 | 0.882 | 0.120 | 1 | 161307376 | missense variant | T/C;G | snv | 8.0E-06 | 0.800 | 1.000 | 23 | 1993 | 2008 | ||||
|
2 | 0.882 | 0.120 | 1 | 161306753 | missense variant | T/G | snv | 0.800 | 1.000 | 22 | 1993 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 161306886 | missense variant | G/A;C;T | snv | 3.2E-05 | 0.800 | 1.000 | 21 | 1993 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 161306870 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
4 | 0.851 | 0.080 | 1 | 161307304 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306752 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.925 | 0.080 | 1 | 161306747 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
10 | 0.742 | 0.160 | 1 | 161306785 | missense variant | G/A;T | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
3 | 0.851 | 0.080 | 1 | 161307361 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.925 | 0.080 | 1 | 161306848 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
8 | 0.732 | 0.160 | 1 | 161306722 | missense variant | T/C;G | snv | 2.0E-05 | 0.800 | 1.000 | 20 | 1993 | 2008 | ||||
|
2 | 0.882 | 0.120 | 1 | 161305953 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
4 | 0.827 | 0.120 | 1 | 161306767 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.882 | 0.080 | 1 | 161306426 | missense variant | C/G;T | snv | 0.800 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.882 | 0.080 | 1 | 161307402 | missense variant | G/A;C;T | snv | 3.2E-05; 5.2E-05 | 0.800 | 1.000 | 1 | 1993 | 1993 | ||||
|
1 | 1.000 | 0.080 | 1 | 161306878 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1993 | 2008 | |||||
|
4 | 0.851 | 0.080 | 1 | 161307389 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1993 | 2008 | ||||
|
2 | 0.851 | 0.120 | 1 | 161307308 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1993 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306756 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.827 | 0.200 | 1 | 161306821 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1993 | 2008 | |||||
|
4 | 0.851 | 0.080 | 1 | 161306911 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1993 | 2008 |