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 | 0.120 | 7 | 50406065 | downstream gene variant | A/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 7 | 50408441 | downstream gene variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 23113360 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 14 | 23116124 | downstream gene variant | C/T | snv | 0.68 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 7 | 50406053 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.120 | 7 | 50405553 | downstream gene variant | A/G | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 14 | 23116809 | downstream gene variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 39805581 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 56408195 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 14 | 23107402 | upstream gene variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 0.820 | 1.000 | 4 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 18121083 | 3 prime UTR variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 1 | 26854576 | 3 prime UTR variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2003 | 2012 | ||||
|
3 | 1.000 | 0.120 | 7 | 50368079 | synonymous variant | T/G | snv | 0.35 | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
15 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 5 | 80655314 | non coding transcript exon variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 50605210 | non coding transcript exon variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 |