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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 5 | 2010 | 2018 | |||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
16 | 0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
16 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 |