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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 6 | 131573314 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.810 | 1.000 | 5 | 1992 | 2018 | |||||
|
1 | 6 | 131583392 | missense variant | G/A;C | snv | 2.0E-05; 8.0E-06 | 0.800 | 1.000 | 7 | 1992 | 2016 | ||||||
|
1 | 6 | 131581326 | missense variant | G/T | snv | 7.0E-06 | 0.800 | 1.000 | 4 | 1992 | 2013 | ||||||
|
1 | 6 | 131576666 | stop gained | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.710 | 1.000 | 2 | 1999 | 2012 | ||||||
|
1 | 6 | 131583810 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 6 | 1992 | 2016 | |||||
|
1 | 6 | 131582620 | splice acceptor variant | G/C | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 1995 | 2015 | |||||
|
1 | 6 | 131581296 | missense variant | A/G | snv | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 1994 | 2016 | |||||
|
1 | 6 | 131582619 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||||
|
1 | 6 | 131573340 | splice donor variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||||
|
1 | 6 | 131583812 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 6 | 131583808 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 131581278 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||||
|
1 | 6 | 131576736 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 131576733 | frameshift variant | A/- | delins | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 6 | 131573284 | start lost | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 131576661 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 131583136 | frameshift variant | -/GAAA | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 131583379 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 131583876 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 131579167 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 131583781 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 131583476 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 6 | 131583831 | missense variant | G/A;C | snv | 4.0E-05 | 0.700 | 0 | |||||||||
|
1 | 6 | 131581284 | frameshift variant | -/T | delins | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 6 | 131579251 | frameshift variant | G/-;GG | delins | 0.700 | 0 |