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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 5 | 150527971 | synonymous variant | T/G | snv | 0.45 | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 10 | 69354232 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 16 | 73035989 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 4 | 110793263 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 1 | 241142948 | intron variant | C/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 8 | 76122993 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.120 | 4 | 186292729 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 7 | 116507854 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 1 | 170629046 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 5 | 173213587 | intergenic variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 10 | 103547967 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.200 | 4 | 154566637 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 17 | 3541092 | intron variant | G/A | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 7 | 151186200 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.200 | 4 | 110787733 | intergenic variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.030 | 1.000 | 3 | 2008 | 2013 | ||||
|
2 | 1.000 | 9 | 109053060 | intron variant | C/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 |