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 | 0.882 | 0.200 | 6 | 32203906 | intron variant | T/C | snv | 0.48 | 0.46 | 0.810 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.320 | 6 | 7118757 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 2 | 120525054 | regulatory region variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.240 | 6 | 31965384 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 31952140 | 3 prime UTR variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 116012923 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 31938233 | intron variant | G/A | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 18 | 64751208 | intergenic variant | A/C | snv | 0.41 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 12822189 | intron variant | A/G;T | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196876143 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.160 | 6 | 31937353 | synonymous variant | G/A | snv | 9.7E-02 | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 1 | 196918327 | missense variant | G/A | snv | 8.0E-02 | 7.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 10 | 122360941 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 196388616 | intron variant | A/C;G | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 122379288 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196447122 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196601576 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196604375 | intron variant | A/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196701709 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 196851794 | intron variant | T/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.040 | 9 | 74002804 | intergenic variant | T/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 122390401 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196392367 | intron variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196394414 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 |