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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 7 | 100243731 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 100505900 | upstream gene variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 9 | 104634643 | downstream gene variant | G/A | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 9 | 104840491 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 7 | 106769006 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 7 | 106872566 | synonymous variant | C/T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.320 | 16 | 10898131 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | X | 109623948 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.882 | 0.160 | 11 | 116837304 | intron variant | A/G | snv | 0.56 | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
13 | 0.763 | 0.360 | 11 | 116837697 | 5 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 5 | 117697919 | intergenic variant | TA/-;TATA;TATATA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.160 | 6 | 12289406 | upstream gene variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 |