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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.807 | 0.200 | 19 | 43670636 | upstream gene variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 19 | 35345697 | synonymous variant | C/A;T | snv | 4.0E-02; 7.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 19 | 49618017 | intron variant | G/A | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
4 | 0.851 | 0.280 | 18 | 21112383 | upstream gene variant | T/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 18 | 64135070 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.710 | 1.000 | 2 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 17 | 75228544 | 5 prime UTR variant | G/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.360 | 17 | 5582047 | missense variant | A/T | snv | 0.37 | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
15 | 0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 17 | 75378864 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 17 | 5652037 | intergenic variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 17 | 5651667 | intergenic variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 17 | 39907128 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 16 | 85938316 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 16 | 31315385 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 16 | 85939422 | intron variant | T/C | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 16 | 85985027 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 31269826 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 |