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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2003 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 23875153 | synonymous variant | G/A | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23874958 | synonymous variant | C/T | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 23787639 | 3 prime UTR variant | G/A | snv | 0.64 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 22384980 | intergenic variant | G/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 1 | 22355873 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 1 | 30940072 | intron variant | G/A | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 172218334 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 65526942 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 1014228 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.200 | 1 | 156242034 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 1 | 23874672 | missense variant | G/A;T | snv | 0.10; 8.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.280 | 1 | 155309691 | non coding transcript exon variant | T/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 23875429 | synonymous variant | T/C | snv | 4.0E-06; 0.62 | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 1 | 68191014 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.807 | 0.160 | 1 | 22373858 | intergenic variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 |