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 | 22 | 18984937 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 20 | 22611792 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
16 | 0.851 | 0.120 | 20 | 41322165 | upstream gene variant | A/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 20 | 41147406 | intron variant | C/A;T | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 19 | 48705753 | 3 prime UTR variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.851 | 0.120 | 18 | 8522684 | intergenic variant | C/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 17 | 63486097 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 16 | 68292297 | non coding transcript exon variant | A/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 15 | 40407823 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
20 | 0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 15 | 38856448 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 15 | 63130573 | 3 prime UTR variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.851 | 0.120 | 14 | 92945686 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 13 | 27936575 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
16 | 0.851 | 0.120 | 12 | 3060327 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 12 | 120722812 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |