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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
7 | 0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.080 | 6 | 21648854 | regulatory region variant | G/A | snv | 0.55 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 128587032 | intergenic variant | C/G | snv | 0.86 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 1.000 | 0.080 | 15 | 40029923 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 0.925 | 0.080 | 5 | 119393632 | 3 prime UTR variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 9 | 99145142 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 32468118 | intergenic variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 114776743 | downstream gene variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 10 | 113678707 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 10 | 113710131 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 17 | 37737784 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 31319014 | missense variant | G/A;C | snv | 0.59; 6.0E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 37607755 | downstream gene variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 14 | 65093799 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 6 | 26092918 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 225764772 | regulatory region variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 37740776 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 12 | 68808776 | intron variant | G/C | snv | 2.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 14014030 | intergenic variant | T/G | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 73070209 | intron variant | C/T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 28623160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 13 | 73240754 | intergenic variant | G/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 |