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 | 0.080 | 9 | 125235024 | 3 prime UTR variant | G/A;T | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 21 | 33228611 | upstream gene variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 12 | 6390939 | 3 prime UTR variant | T/A;G | snv | 1.6E-04; 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 4850141 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 21587626 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 100975519 | regulatory region variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.080 | 6 | 31149298 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 21691444 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 6 | 33071909 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33073399 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33073409 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 21384972 | missense variant | C/T | snv | 7.6E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 8 | 144505069 | missense variant | G/A | snv | 1.5E-04 | 6.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 4 | 141649319 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 32932241 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 4 | 170892334 | downstream gene variant | A/G | snv | 2.6E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33064411 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 13 | 76953629 | synonymous variant | T/A | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 13 | 76946724 | upstream gene variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 48422844 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 85694266 | intron variant | G/C | snv | 0.51 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 44472854 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 14 | 69786192 | missense variant | C/G;T | snv | 8.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 32741586 | intron variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33076153 | intron variant | A/G | snv | 0.24 | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 |