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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.900 | 1.000 | 58 | 1991 | 2019 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.900 | 0.923 | 52 | 2013 | 2020 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.900 | 1.000 | 33 | 2009 | 2020 | |||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.900 | 0.913 | 23 | 2009 | 2018 | ||||
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.900 | 0.826 | 23 | 2009 | 2019 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.900 | 0.950 | 20 | 2009 | 2019 | ||||
|
8 | 0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv | 0.900 | 1.000 | 17 | 2009 | 2019 | |||||
|
8 | 0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 | 0.900 | 1.000 | 16 | 2011 | 2019 | ||||
|
8 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 0.900 | 1.000 | 14 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 78380104 | intron variant | C/A | snv | 0.24 | 0.900 | 0.750 | 12 | 2007 | 2018 | ||||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.900 | 1.000 | 11 | 2011 | 2019 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.890 | 0.933 | 15 | 2005 | 2019 | |||
|
6 | 0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 | 0.880 | 1.000 | 11 | 2009 | 2017 | ||||
|
5 | 0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 | 0.880 | 1.000 | 9 | 2009 | 2019 | |||
|
3 | 0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv | 0.860 | 1.000 | 10 | 2013 | 2019 | |||||
|
2 | 1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 | 0.850 | 0.833 | 6 | 2011 | 2019 | ||||
|
5 | 0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 | 0.840 | 1.000 | 6 | 2009 | 2019 | ||||
|
5 | 0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 | 0.840 | 1.000 | 4 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 11 | 121564878 | intron variant | T/A;C | snv | 0.830 | 1.000 | 8 | 2013 | 2019 | |||||
|
3 | 0.882 | 0.120 | 8 | 27337604 | intron variant | T/C | snv | 0.32 | 0.830 | 1.000 | 7 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 | 0.830 | 1.000 | 5 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.160 | 14 | 52933911 | intron variant | T/C | snv | 8.6E-02 | 0.830 | 1.000 | 4 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 47485642 | intron variant | G/C | snv | 0.23 | 0.830 | 1.000 | 4 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 1050421 | intron variant | A/G | snv | 1.7E-02 | 0.830 | 0.667 | 3 | 2013 | 2019 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.820 | 1.000 | 11 | 2007 | 2019 |