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 | 1 | 243500591 | 3 prime UTR variant | C/T | snv | 0.17 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 98036428 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 66320247 | intron variant | A/G | snv | 0.47 | 0.030 | 1.000 | 3 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 241566754 | intron variant | C/T | snv | 0.28 | 0.030 | 0.667 | 3 | 2006 | 2014 | ||||
|
2 | 0.925 | 0.120 | 1 | 98046571 | non coding transcript exon variant | G/T | snv | 0.83 | 0.710 | 1.000 | 3 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 43631859 | intergenic variant | T/C | snv | 0.53 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 72812932 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 213974546 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 66311907 | intron variant | A/T | snv | 0.37 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 73323641 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 98084855 | intergenic variant | T/C | snv | 0.85 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 150519638 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 50106424 | intron variant | C/A | snv | 0.22; 3.8E-05 | 0.18 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 162254796 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
3 | 0.882 | 0.160 | 1 | 231761122 | intron variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 8435530 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.020 | 0.500 | 2 | 2010 | 2017 | |||
|
2 | 1.000 | 0.040 | 1 | 29956096 | intergenic variant | A/T | snv | 0.54 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 8427263 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 243612815 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 0.925 | 0.120 | 1 | 232037092 | 3 prime UTR variant | G/A | snv | 3.1E-02 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 65848311 | intron variant | G/T | snv | 0.53 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
7 | 0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2013 | 2014 |