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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2005 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2019 | |||
|
1 | 5 | 118700852 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 8 | 118932927 | splice region variant | G/A | snv | 0.11 | 9.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 12 | 120702516 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 12 | 120738280 | missense variant | G/A | snv | 0.26 | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 12 | 120742216 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 12 | 121625105 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 9 | 122362748 | intergenic variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 3 | 12379746 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.200 | 12 | 12718066 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 20 | 12992873 | intron variant | A/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 6 | 134225547 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 |