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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 | 0.820 | 0.667 | 3 | 2010 | 2019 | ||||
|
5 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2009 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 114556471 | intergenic variant | C/T | snv | 0.12 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114721064 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 9623510 | non coding transcript exon variant | T/C | snv | 5.4E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 114498310 | intron variant | C/T | snv | 0.58 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114518963 | intergenic variant | A/G | snv | 0.44 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114416918 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114537037 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 114453702 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114510087 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 16 | 84180078 | missense variant | C/T | snv | 1.9E-02 | 1.5E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 2 | 205221447 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 114405659 | missense variant | A/G | snv | 0.88 | 0.92 | 0.800 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 114496497 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 114456655 | intron variant | G/A | snv | 0.36 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 162656512 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 8 | 71649507 | intergenic variant | C/T | snv | 0.83 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 114716978 | 3 prime UTR variant | G/T | snv | 0.11 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114697195 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 0.700 | 1.000 | 4 | 2012 | 2016 | |||||
|
6 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
12 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 3 | 2002 | 2011 | |||
|
3 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2004 | 2012 |