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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
6 | 0.807 | 0.320 | 12 | 47850776 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 35875491 | non coding transcript exon variant | A/T | snv | 0.49 | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.120 | 9 | 32464137 | intron variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 11 | 65662465 | 5 prime UTR variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 5 | 40955459 | missense variant | G/C | snv | 0.58 | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 25564344 | non coding transcript exon variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 12914412 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
10 | 0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | X | 12916993 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
17 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.200 | 4 | 73870427 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
22 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 99574424 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | X | 12883443 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 |