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 | 0.925 | 0.160 | 2 | 169154475 | stop gained | T/A;C | snv | 0.76 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 1.000 | 3 | 2004 | 2012 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.925 | 0.160 | 10 | 17114152 | missense variant | A/G | snv | 0.73 | 0.72 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2005 | 2017 | ||||
|
5 | 0.882 | 0.160 | 11 | 116837304 | intron variant | A/G | snv | 0.56 | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 20 | 4899662 | synonymous variant | G/A | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.040 | 7 | 106872566 | synonymous variant | C/T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
17 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
17 | 0.716 | 0.440 | 10 | 51299646 | non coding transcript exon variant | T/C | snv | 0.25 | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 |