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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.320 | 6 | 31382927 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 34959503 | intron variant | A/G | snv | 0.47 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.160 | 7 | 28149792 | intron variant | T/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 190669646 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 7 | 129068743 | upstream gene variant | T/A | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 129068068 | upstream gene variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 1 | 198696788 | synonymous variant | C/G;T | snv | 8.8E-03; 8.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 1.000 | 5 | 2002 | 2010 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 173363490 | non coding transcript exon variant | A/C | snv | 0.79 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 7 | 74123572 | downstream gene variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.090 | 0.889 | 9 | 2009 | 2017 | ||||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.830 | 1.000 | 5 | 2010 | 2019 |