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 | 11 | 116761784 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 19951924 | synonymous variant | G/A | snv | 3.3E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 19 | 44908706 | missense variant | G/A | snv | 1.9E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 11 | 231980 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 4 | 140565830 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 74002546 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 116787406 | intron variant | G/T | snv | 3.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 44515974 | intron variant | T/G | snv | 0.21 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 7 | 44513639 | synonymous variant | A/G | snv | 0.16 | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 2 | 169168573 | synonymous variant | A/G | snv | 0.20 | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | X | 15564843 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 75800527 | 3 prime UTR variant | T/C | snv | 0.14 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | X | 15584941 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 61835025 | intron variant | ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG | delins | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 144326802 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 19 | 11106640 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||||
|
1 | 8 | 42180286 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 7 | 44147757 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1 | 151368294 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
2 | 1.000 | 0.040 | 11 | 116763231 | missense variant | G/A | snv | 6.4E-02 | 4.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 19 | 11105516 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 12 | 109472747 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 12 | 109556403 | 3 prime UTR variant | C/G | snv | 0.23 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 12 | 109474527 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 8 | 11589291 | regulatory region variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |