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 | 0.080 | 3 | 38630420 | missense variant | C/G;T | snv | 2.0E-05; 2.8E-05 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
2 | 0.882 | 0.120 | 3 | 38630393 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 38630376 | missense variant | G/A;T | snv | 3.6E-05; 4.0E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
1 | 0.925 | 0.080 | 3 | 38630341 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
2 | 0.827 | 0.120 | 3 | 38622401 | stop gained | C/A;G;T | snv | 4.1E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 38620929 | missense variant | C/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38620921 | missense variant | G/C | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38620910 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38620900 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 38613811 | missense variant | A/G;T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38613758 | missense variant | T/C | snv | 4.2E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 38609950 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 21 | 1998 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 38609860 | missense variant | G/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38609841 | missense variant | A/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38609770 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 21 | 1998 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 38608194 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.8E-05 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 38608190 | missense variant | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
1 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 0.925 | 0.080 | 3 | 38606802 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38606757 | missense variant | C/A;T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 0.882 | 0.120 | 3 | 38606751 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
2 | 0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 21 | 1998 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 38606703 | missense variant | A/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38606133 | missense variant | C/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 |