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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.773 | 22 | 2006 | 2020 | |||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.070 | 1.000 | 7 | 2007 | 2020 | |||
|
2 | 1.000 | 0.040 | 12 | 68106295 | intron variant | G/A | snv | 0.32 | 0.810 | 1.000 | 2 | 2012 | 2020 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | X | 124365786 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 1.000 | 0.040 | 6 | 32622994 | TF binding site variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.100 | 0.917 | 12 | 2004 | 2019 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.080 | 0.750 | 8 | 2005 | 2019 | |||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.750 | 1.000 | 7 | 2016 | 2019 | |||
|
5 | 0.882 | 0.120 | 14 | 88006251 | intron variant | C/T | snv | 0.18 | 0.810 | 1.000 | 3 | 2012 | 2019 | ||||
|
2 | 1.000 | 0.080 | 19 | 33259408 | intergenic variant | G/A | snv | 0.14 | 0.820 | 1.000 | 2 | 2009 | 2019 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
4 | 0.882 | 0.080 | 3 | 119814886 | intron variant | G/A;T | snv | 0.46 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
2 | 6 | 18104864 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.040 | 6 | 88144985 | missense variant | T/C | snv | 3.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | 22 | 43001030 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.160 | 6 | 32447303 | downstream gene variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.120 | 19 | 53824059 | missense variant | C/A;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.160 | 4 | 38798593 | missense variant | C/G | snv | 6.9E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |