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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.020 | 0.500 | 2 | 2001 | 2005 | |||
|
2 | 0.925 | 0.040 | 13 | 33112802 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.040 | 22 | 23285182 | missense variant | A/G | snv | 0.81 | 0.86 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 11 | 27703198 | intron variant | C/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.160 | 17 | 45834159 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 4 | 94435177 | intergenic variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 3 | 119896528 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 101133650 | intron variant | G/A;T | snv | 0.41 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 3 | 119894095 | intron variant | C/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 4 | 94449654 | upstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 4 | 94575731 | missense variant | C/T | snv | 0.27 | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.040 | 15 | 88126151 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.040 | 15 | 88184105 | intron variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 101128442 | missense variant | G/A | snv | 2.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.807 | 0.200 | 7 | 101128436 | missense variant | G/A | snv | 9.5E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 3 | 119839004 | intron variant | A/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 101138164 | 3 prime UTR variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.040 | 1 | 215188864 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 |