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 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 | 0.840 | 1.000 | 10 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 2825839 | intron variant | T/G | snv | 0.40 | 0.810 | 1.000 | 8 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 2828300 | intron variant | A/C | snv | 0.10 | 0.760 | 1.000 | 8 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 20687890 | intron variant | T/A;G | snv | 0.26 | 0.820 | 1.000 | 7 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 80143021 | intergenic variant | G/A | snv | 0.23 | 0.810 | 1.000 | 6 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 2837210 | intron variant | G/A;T | snv | 0.810 | 1.000 | 6 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 60357684 | intron variant | G/A | snv | 0.45 | 0.820 | 1.000 | 6 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 | 0.820 | 1.000 | 6 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 119389891 | intron variant | C/T | snv | 0.39 | 0.850 | 1.000 | 5 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 44231853 | intron variant | G/C | snv | 0.24 | 0.050 | 0.400 | 5 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 7285729 | missense variant | G/A;C | snv | 4.2E-03; 4.0E-06 | 0.700 | 1.000 | 5 | 1991 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 7120707 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 5 | 1992 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 39316274 | missense variant | G/T | snv | 0.51 | 0.60 | 0.830 | 1.000 | 5 | 2011 | 2019 | |||
|
1 | 1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 | 0.810 | 1.000 | 5 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 77129124 | intron variant | G/A | snv | 0.74 | 0.800 | 1.000 | 5 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 64062621 | intergenic variant | T/C | snv | 0.81 | 0.830 | 1.000 | 5 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 44234064 | intron variant | T/C | snv | 0.32 | 0.26 | 0.040 | 0.500 | 4 | 2012 | 2015 | |||
|
1 | 1.000 | 0.080 | 19 | 40237979 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2004 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 79337213 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 23413299 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 65818538 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 44236252 | intron variant | T/C | snv | 0.32 | 0.24 | 0.040 | 0.500 | 4 | 2012 | 2015 | |||
|
1 | 1.000 | 0.080 | 8 | 41661944 | splice region variant | A/G;T | snv | 0.78 | 0.840 | 1.000 | 4 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 48977986 | missense variant | T/C | snv | 1.9E-02 | 1.4E-02 | 0.040 | 0.500 | 4 | 1997 | 2003 | |||
|
1 | 1.000 | 0.080 | 3 | 23156993 | intergenic variant | G/A | snv | 0.25 | 0.800 | 1.000 | 4 | 2010 | 2014 |