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 | 1.000 | 0.040 | 16 | 23367879 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2005 | 2009 | |||||
|
1 | 1.000 | 0.040 | 16 | 23367942 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 3 | 2005 | 2009 | ||||
|
25 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117540285 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117611717 | stop gained | C/A;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117530898 | splice acceptor variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117592218 | frameshift variant | AA/G | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117559546 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.200 | 7 | 117642451 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117530918 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117535326 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 23367959 | missense variant | G/A;T | snv | 7.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.700 | 0 | |||||||
|
18 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117639961 | intron variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117509047 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117530974 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.0E-04 | 0.700 | 0 | |||||||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117611707 | stop gained | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117534318 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 23380493 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 3 | 2005 | 2009 | |||
|
4 | 0.851 | 0.160 | 7 | 117535263 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 |