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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 1 | 107832253 | intron variant | G/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 1 | 2569783 | non coding transcript exon variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 1 | 81771892 | intron variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
14 | 0.724 | 0.240 | 1 | 172869708 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 1 | 206760172 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 1 | 197406337 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 2 | 190398199 | intergenic variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.040 | 2 | 1403856 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 2 | 162516642 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.040 | 2 | 12504610 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 2 | 162219636 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.240 | 2 | 233276621 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.040 | 2 | 97756543 | 3 prime UTR variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 2 | 60960280 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.827 | 0.120 | 2 | 191101726 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 3 | 192909627 | intron variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 |