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 | 16 | 55661194 | intron variant | C/T | snv | 8.6E-02 | 0.030 | 1.000 | 3 | 2008 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 20683524 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 55692146 | intron variant | C/T | snv | 5.3E-03 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 10 | 126084807 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | X | 7256158 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 16 | 55697663 | intron variant | G/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | X | 7336440 | intron variant | C/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 79203668 | intron variant | G/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 133644512 | intron variant | T/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||
|
2 | 1.000 | 0.040 | 5 | 1412530 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.040 | 16 | 55697132 | intron variant | G/A | snv | 3.6E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 117313620 | intron variant | G/A | snv | 0.35 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 1394755 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
1 | 1.000 | 0.040 | 20 | 10307094 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.040 | 7 | 73712768 | intron variant | G/A | snv | 2.1E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 61608511 | intron variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 36686784 | 3 prime UTR variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 84412778 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 10 | 52014152 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 52017283 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 10 | 52019720 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 28966665 | intergenic variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 115266527 | intron variant | T/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 232802953 | upstream gene variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 8 | 92392214 | intergenic variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 |