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 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 2 | 130120359 | missense variant | C/T | snv | 3.2E-05 | 7.1E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 8 | 24914799 | missense variant | G/A;C | snv | 3.4E-04; 1.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.040 | 5 | 1416151 | synonymous variant | G/A | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.120 | 17 | 35878529 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 0.500 | 2 | 2003 | 2005 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 2 | 156329978 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 4 | 99347033 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 11 | 27658085 | synonymous variant | C/A;T | snv | 4.0E-06; 4.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 19 | 10284610 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 4 | 99347032 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.040 | 1 | 20645618 | missense variant | G/A | snv | 9.2E-02 | 5.0E-02 | 0.020 | 1.000 | 2 | 2004 | 2006 | |||
|
3 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 9 | 18622045 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 1 | 43475837 | TF binding site variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 11 | 49685809 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 7 | 22114836 | downstream gene variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 7 | 145337519 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 5 | 53824125 | upstream gene variant | C/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
17 | 0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 6 | 161548937 | missense variant | G/A | snv | 2.4E-03 | 5.2E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | X | 83449447 | intergenic variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2006 | 2006 |