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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 2 | 149707970 | intron variant | C/T | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 6 | 33893066 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 9 | 82800066 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 8 | 144505033 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.0E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 6669940 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 22 | 35734507 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 2 | 31485750 | intergenic variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1 | 183389270 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 0.851 | 0.200 | 7 | 87450090 | splice region variant | T/A | snv | 0.21 | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 2 | 169013785 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
10 | 0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 1.000 | 0.040 | 22 | 43945024 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 27869512 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.120 | 5 | 174435441 | intron variant | A/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 22 | 43928975 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
22 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 1.000 | 0.120 | 1 | 26854576 | 3 prime UTR variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 10 | 96700824 | non coding transcript exon variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 4 | 145900258 | intron variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 |