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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 10 | 124398012 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 0.800 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124403847 | missense variant | G/A;C | snv | 3.6E-05 | 0.800 | 1.000 | 7 | 1988 | 2013 | ||||
|
2 | 1.000 | 0.080 | 10 | 124403027 | missense variant | G/A | snv | 4.4E-05 | 1.4E-05 | 0.800 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124405545 | missense variant | C/G | snv | 7.2E-05 | 7.7E-05 | 0.720 | 1.000 | 9 | 1988 | 2019 | |||
|
2 | 1.000 | 0.080 | 10 | 124398057 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-04 | 0.710 | 1.000 | 8 | 1988 | 2013 | ||||
|
3 | 0.925 | 0.080 | 10 | 124401746 | missense variant | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 8 | 1988 | 2018 | ||||
|
2 | 1.000 | 0.080 | 10 | 124401788 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.710 | 1.000 | 8 | 1988 | 2013 | |||
|
4 | 0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.710 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124412009 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||
|
2 | 1.000 | 0.080 | 10 | 124408887 | missense variant | C/A | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
6 | 0.851 | 0.160 | 10 | 124408601 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||
|
2 | 1.000 | 0.080 | 10 | 124403019 | missense variant | C/G | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124403015 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124400875 | missense variant | C/G | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124403835 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124412010 | missense variant | G/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124401785 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124403820 | missense variant | C/G;T | snv | 4.8E-05 | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||
|
2 | 1.000 | 0.080 | 10 | 124400941 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124398082 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124408897 | missense variant | G/C | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124397951 | missense variant | C/A;G;T | snv | 2.8E-04; 4.0E-06 | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||
|
2 | 1.000 | 0.080 | 10 | 124405488 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 7 | 1988 | 2013 | |||
|
2 | 1.000 | 0.080 | 10 | 124398081 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||
|
2 | 1.000 | 0.080 | 10 | 124397955 | missense variant | A/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 1988 | 2013 |