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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.020 | 0.500 | 2 | 2011 | 2019 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.280 | 6 | 32697951 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.240 | 6 | 32380368 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.240 | 6 | 32713500 | upstream gene variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.160 | 6 | 32690533 | TF binding site variant | G/A | snv | 0.53 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.240 | 6 | 32715085 | upstream gene variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 6 | 32222629 | synonymous variant | A/G | snv | 0.38 | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.280 | 6 | 32416944 | intergenic variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31475546 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31470591 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 6 | 31511209 | upstream gene variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 32420032 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 31478132 | non coding transcript exon variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 32408196 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.200 | 6 | 32717773 | upstream gene variant | G/A | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |