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 | 16 | 47003958 | upstream gene variant | A/T | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 76779014 | upstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 13 | 113102878 | upstream gene variant | C/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 73591446 | downstream gene variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 5947039 | intron variant | G/C;T | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 44551736 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 0.080 | 9 | 133260148 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 20 | 36757832 | intron variant | G/A | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 113121904 | upstream gene variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 13 | 113127628 | intron variant | A/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 13 | 113116562 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||||
|
3 | 13 | 113105720 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2007 | 2019 | |||||||
|
1 | 13 | 113115603 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 7 | 28216621 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 4 | 99121091 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 13 | 113097743 | 3 prime UTR variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 113043357 | non coding transcript exon variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 113098925 | 3 prime UTR variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 113074184 | intron variant | C/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 113080062 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1.000 | 0.080 | 11 | 60175342 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 |