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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 1 | 196972363 | downstream gene variant | T/C | snv | 0.62 | 0.710 | 1.000 | 4 | 2011 | 2013 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 197011530 | downstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 122347969 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 3 | 46266981 | downstream gene variant | T/A;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196749084 | downstream gene variant | C/G | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196972531 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.040 | 16 | 75200974 | downstream gene variant | C/A | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 197013024 | downstream gene variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196796337 | downstream gene variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196964115 | downstream gene variant | C/A;T | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.860 | 1.000 | 8 | 2010 | 2018 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.060 | 0.833 | 6 | 2009 | 2019 | |||||
|
5 | 0.882 | 0.040 | 1 | 196651787 | upstream gene variant | C/T | snv | 0.22 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 196610909 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
13 | 0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
26 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 0.020 | 0.500 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 109096844 | upstream gene variant | T/C | snv | 0.55 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 196968406 | upstream gene variant | T/C | snv | 0.65 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 16 | 10492245 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 |