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 | 124398057 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-04 | 0.710 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.925 | 0.080 | 10 | 124401746 | missense variant | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 10 | 124403859 | missense variant | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | ||||||
|
2 | 1.000 | 0.080 | 10 | 124398012 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 0.700 | 1.000 | 3 | 1992 | 2013 | |||
|
1 | 10 | 124405457 | stop gained | A/G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 2 | 1992 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 10 | 124412013 | frameshift variant | G/- | del | 4.0E-06 | 0.700 | 1.000 | 2 | 1992 | 2017 | ||||
|
1 | 10 | 124412169 | start lost | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 10 | 124405532 | inframe deletion | CAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 124398076 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.080 | 10 | 124412009 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 10 | 124408887 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 10 | 124408601 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 10 | 124405545 | missense variant | C/G | snv | 7.2E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 10 | 124403019 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 124403015 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 124400875 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 124403835 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 10 | 124412010 | missense variant | G/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 10 | 124401785 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 10 | 124405534 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 10 | 124403847 | missense variant | G/A;C | snv | 3.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 10 | 124403820 | missense variant | C/G;T | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 10 | 124400941 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 10 | 124398082 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 10 | 124398061 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 0 |