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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 166960059 | upstream gene variant | T/G | snv | 0.57 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 4 | 38323415 | intergenic variant | T/C | snv | 0.15 | 0.710 | 1.000 | 3 | 2014 | 2016 | ||||
|
2 | 1.000 | 0.040 | 22 | 30196498 | intron variant | C/G | snv | 0.47 | 0.030 | 1.000 | 3 | 2014 | 2015 | ||||
|
4 | 1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 20812357 | intron variant | G/A | snv | 0.64 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 0.800 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.080 | 19 | 33259408 | intergenic variant | G/A | snv | 0.14 | 0.820 | 1.000 | 2 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2017 | |||||
|
2 | 1.000 | 0.040 | 2 | 144734815 | intron variant | C/G | snv | 5.9E-02 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
4 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 6039267 | intron variant | C/A | snv | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.040 | 17 | 59886176 | missense variant | A/G | snv | 0.45 | 0.46 | 0.800 | 1.000 | 2 | 2012 | 2015 | |||
|
2 | 1.000 | 0.080 | 9 | 114881082 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 197732149 | intron variant | G/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 17 | 34266955 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 9 | 21966222 | intron variant | G/A | snv | 0.22 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 107839870 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 9 | 91166134 | non coding transcript exon variant | C/T | snv | 0.61 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.040 | 16 | 11279463 | intron variant | C/T | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 80494291 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 2 | 65440138 | intron variant | C/A | snv | 0.78 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.040 | 12 | 68106295 | intron variant | G/A | snv | 0.32 | 0.810 | 1.000 | 2 | 2012 | 2020 |