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 | 10 | 122582793 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 87864514 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 87894052 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47410322 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87925518 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 27269953 | intron variant | C/T | snv | 7.1E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 55254859 | intron variant | A/C | snv | 0.66 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 14 | 32780875 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.040 | 16 | 50094961 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.120 | 11 | 118709156 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 1 | 245683732 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 246320481 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 83199436 | intergenic variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 100000723 | non coding transcript exon variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 132799954 | intron variant | T/C | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 118618067 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 118685689 | downstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.040 | 11 | 82685972 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 238358337 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 10 | 103901557 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 10 | 112699938 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 |