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 | 1.000 | 0.080 | 8 | 124714135 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 242084344 | upstream gene variant | C/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 5 | 63545132 | intergenic variant | T/A | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 4 | 56517605 | intron variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 4 | 4360022 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 10 | 61070020 | intergenic variant | T/C | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 64306961 | intron variant | A/T | snv | 6.0E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 22112428 | intron variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 9 | 22112242 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 13 | 21120420 | intergenic variant | G/A | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 3 | 100894935 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 22 | 19168604 | upstream gene variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 3496602 | splice region variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 0.807 | 0.120 | 9 | 22028802 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 9 | 22018782 | intron variant | T/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 22054041 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 9 | 22048684 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 22048415 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 22048392 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 22053710 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 5 | 126557237 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 9 | 22029081 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 2 | 185953121 | non coding transcript exon variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |