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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 6 | 31507709 | intron variant | C/T | snv | 0.77 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.040 | 8 | 54527508 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 16 | 6767374 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.040 | 0.750 | 4 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 141927349 | intron variant | G/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196673869 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 10 | 98641918 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.742 | 0.360 | 14 | 24510132 | upstream gene variant | C/T | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 64880504 | intron variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 2 | 8793960 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 8 | 39927802 | intron variant | G/A | snv | 0.40 | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.827 | 0.240 | 10 | 94265734 | intron variant | A/C | snv | 9.7E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 63486691 | synonymous variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.080 | 6 | 33580617 | intron variant | G/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 4 | 75787191 | missense variant | A/G | snv | 1.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
11 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 |