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 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 1.000 | 0.949 | 3 | 2001 | 2019 | ||||
|
1 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 1.000 | 0.940 | 2 | 2001 | 2018 | |||
|
1 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.790 | 1.000 | 1 | 2002 | 2014 | ||||
|
2 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.890 | 0.923 | 4 | 2005 | 2019 | ||||
|
2 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.830 | 1.000 | 3 | 2005 | 2016 | ||||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 2 | 2005 | 2016 | |||
|
1 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.850 | 1.000 | 2 | 2005 | 2018 | |||
|
2 | 0.925 | 0.080 | 9 | 114783386 | downstream gene variant | C/T | snv | 0.34 | 0.820 | 1.000 | 2 | 2005 | 2019 | ||||
|
3 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.760 | 1.000 | 2 | 2005 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114907019 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114856029 | intron variant | A/C | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114917522 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114901931 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114901892 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114915956 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114907419 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114801407 | intron variant | T/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.720 | 1.000 | 1 | 2005 | 2016 | ||||
|
1 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.840 | 1.000 | 1 | 2005 | 2018 | ||||
|
1 | 0.882 | 0.040 | 9 | 114818634 | intergenic variant | C/G;T | snv | 0.830 | 1.000 | 1 | 2005 | 2015 | |||||
|
5 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.944 | 8 | 2006 | 2020 | |||
|
3 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.800 | 1.000 | 4 | 2006 | 2010 | |||
|
1 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2006 | 2007 |