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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.040 | 1 | 110603893 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.080 | 1 | 11022400 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 1 | 161305924 | missense variant | A/C | snv | 0.700 | 0 | |||||||||
|
6 | 0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 | 0.700 | 0 | ||||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 3 | 161275076 | regulatory region variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2003 | 2004 | |||||
|
3 | 1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 4 | 69107231 | synonymous variant | C/G | snv | 0.56 | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 4 | 69094669 | intron variant | C/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 69094762 | intron variant | T/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 69113183 | downstream gene variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 1.000 | 5 | 150123142 | missense variant | G/A;T | snv | 1.1E-04; 1.6E-05 | 0.700 | 0 | ||||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 |