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 | 5 | 61495766 | intron variant | C/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 61400496 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 61435631 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 5 | 61441122 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 6 | 28230108 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 28357424 | intron variant | C/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 28338894 | intron variant | T/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 28427729 | downstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 28432761 | 3 prime UTR variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 28044305 | intron variant | A/G | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 28050847 | intron variant | C/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 28043874 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.040 | 19 | 19948684 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 19 | 11738921 | 5 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 184598458 | non coding transcript exon variant | T/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.900 | 0.873 | 63 | 2008 | 2019 | |||||
|
6 | 0.827 | 0.160 | 2 | 184668853 | intron variant | T/C | snv | 0.53 | 0.720 | 1.000 | 5 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 184736693 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 4 | 2014 | 2019 | ||||
|
4 | 0.851 | 0.040 | 2 | 184936178 | missense variant | A/T | snv | 0.66 | 0.59 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 184937516 | missense variant | C/A;T | snv | 0.59; 4.1E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 184776001 | intron variant | A/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 184915498 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 184938637 | missense variant | C/G | snv | 0.17 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 2 | 184798577 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 |