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 | 172929237 | intron variant | T/C | snv | 0.52 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67262335 | downstream gene variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.720 | 1.000 | 1 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 67113712 | 3 prime UTR variant | C/A;T | snv | 8.0E-06; 6.4E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 1 | 78157942 | regulatory region variant | C/T | snv | 7.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 197758512 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 67187327 | intron variant | G/A | snv | 0.29 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 0.800 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 1 | 200991179 | intron variant | G/A | snv | 0.27 | 0.27 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 0.882 | 0.160 | 1 | 7819003 | intron variant | C/T | snv | 0.23 | 0.810 | 1.000 | 1 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 67205233 | intron variant | G/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.850 | 0.875 | 1 | 2008 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 119908567 | downstream gene variant | T/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 67133974 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 160860478 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 67264372 | downstream gene variant | A/G | snv | 0.35 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 172884320 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2010 | 2017 | ||||
|
2 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.880 | 1.000 | 1 | 2007 | 2019 | ||||
|
1 | 0.925 | 0.120 | 1 | 67219760 | intron variant | G/A | snv | 0.43 | 0.47 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 1 | 67266920 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 1 | 67207082 | intron variant | G/A | snv | 0.33 | 0.30 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2010 | 2017 | ||||
|
1 | 0.882 | 0.080 | 1 | 67182913 | missense variant | G/A | snv | 7.3E-03 | 4.5E-03 | 0.850 | 1.000 | 1 | 2011 | 2019 | |||
|
2 | 0.882 | 0.080 | 1 | 67260421 | downstream gene variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.900 | 0.961 | 4 | 2007 | 2020 |