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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 19 | 45693376 | intron variant | C/A;G | snv | 1.0E-04; 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 97688682 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1.000 | 0.080 | 6 | 7247111 | missense variant | C/A;G;T | snv | 0.13; 3.0E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 11 | 47284118 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 0.925 | 0.120 | 2 | 27313513 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 3 | 113304023 | missense variant | T/A;C | snv | 0.98 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 18732931 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 8 | 76910847 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 213977478 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 13 | 27925825 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 0.925 | 0.080 | 14 | 89568628 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 2 | 168945742 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
8 | 1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 17 | 21169976 | intron variant | A/G | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 42856322 | intron variant | G/C | snv | 9.1E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 3286126 | intergenic variant | G/A | snv | 2.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 2 | 168907981 | missense variant | T/C | snv | 5.1E-03 | 3.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 9 | 93420421 | downstream gene variant | A/C | snv | 6.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 20 | 21492724 | upstream gene variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 6 | 39079018 | missense variant | G/A | snv | 1.0E-02 | 1.1E-02 | 0.700 | 1.000 | 2 | 2015 | 2015 | |||
|
1 | 9 | 122665528 | downstream gene variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 213977102 | intron variant | T/A | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 7327891 | intergenic variant | T/C | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 |