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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 1 | 231395881 | intron variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.776 | 0.200 | 2 | 54252062 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.280 | 2 | 54248777 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.280 | 2 | 54269620 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.200 | 2 | 102007256 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 54219450 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.776 | 0.320 | 4 | 148436862 | splice region variant | G/A;C | snv | 4.2E-06; 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
4 | 0.851 | 0.160 | 5 | 143407136 | non coding transcript exon variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 143346605 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 143401132 | intron variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 143300779 | intron variant | C/A | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 5 | 143298796 | synonymous variant | G/A | snv | 8.4E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
10 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 6 | 104412396 | intergenic variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 |