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 | 12 | 122207191 | missense variant | C/A;G | snv | 1.00 | 0.99 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 12 | 885321 | missense variant | G/C | snv | 1.00 | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 10 | 106706654 | intron variant | C/T | snv | 0.98 | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1 | 205161285 | missense variant | A/G;T | snv | 0.93 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 5 | 131672501 | missense variant | T/A;C | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 9 | 2012 | 2019 | |||
|
1 | 11 | 117163903 | non coding transcript exon variant | G/A;T | snv | 4.0E-06; 0.81 | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||
|
6 | 1 | 220796686 | missense variant | A/G | snv | 0.75 | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.120 | 9 | 84002350 | missense variant | A/G;T | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.800 | 1.000 | 6 | 2010 | 2019 | |||
|
2 | 8 | 22634539 | intron variant | G/A;C | snv | 0.70; 7.8E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 5 | 157052312 | intron variant | G/A;C | snv | 6.2E-03; 0.67 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
3 | 19 | 48756272 | synonymous variant | A/G;T | snv | 0.67; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 20 | 57523677 | missense variant | T/A;C | snv | 4.0E-06; 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 75669297 | stop gained | G/A | snv | 0.63 | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 23 | 2008 | 2019 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 15 | 40459356 | missense variant | C/A | snv | 0.59 | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.160 | 17 | 17506246 | missense variant | C/T | snv | 0.59 | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 11 | 48136317 | intron variant | T/C | snv | 0.58 | 0.48 | 0.700 | 1.000 | 1 | 2009 | 2009 |