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 | 0.160 | 2 | 47480770 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 37 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475093 | missense variant | C/A;T | snv | 0.700 | 1.000 | 36 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47403329 | missense variant | C/G;T | snv | 2.2E-04 | 1.8E-04 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
1 | 1.000 | 0.160 | 2 | 47475151 | missense variant | A/G | snv | 1.2E-03 | 4.1E-04 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
1 | 1.000 | 0.160 | 2 | 47410209 | missense variant | T/A;C | snv | 0.800 | 1.000 | 36 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47416321 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 36 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47480737 | missense variant | G/A | snv | 9.9E-05 | 7.7E-05 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
1 | 1.000 | 0.160 | 2 | 47478303 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47410320 | missense variant | A/G | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47410143 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47408493 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47416344 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47463053 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475177 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47480754 | missense variant | T/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47482936 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47414291 | missense variant | C/T | snv | 3.0E-04 | 4.5E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47475052 | missense variant | A/G | snv | 3.2E-04 | 2.2E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47403322 | missense variant | C/A;T | snv | 4.4E-06; 4.4E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475181 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47476384 | missense variant | AAA/GCC | mnv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47480753 | missense variant | A/G | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47410162 | missense variant | T/G | snv | 3.2E-04 | 3.1E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47410226 | missense variant | G/C | snv | 8.7E-05 | 7.0E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47403325 | missense variant | C/T | snv | 4.4E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 |