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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 13 | 2001 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2009 | 2017 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.851 | 0.120 | 1 | 118360355 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 141204588 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 3 | 114227412 | intron variant | T/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 4 | 175023930 | downstream gene variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 4 | 139874173 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.040 | 1.000 | 4 | 2006 | 2017 | |||
|
1 | 5 | 173233142 | frameshift variant | CCG/AT | delins | 0.700 | 1.000 | 2 | 1998 | 1999 | |||||||
|
3 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 5 | 79114164 | intron variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 79113573 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 173233212 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 6 | 42960279 | upstream gene variant | C/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 30855983 | regulatory region variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 9320073 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 |