| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 3 | 179455191 | upstream gene variant | G/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 137859073 | non coding transcript exon variant | A/G | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 33424055 | intron variant | A/C;T | snv | 0.70 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 12 | 38712929 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 172067378 | intron variant | G/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 8 | 95439600 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 4 | 164159753 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 34423401 | intron variant | A/G | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164174438 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 10 | 59510886 | intergenic variant | T/C | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 11 | 37475966 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 12 | 99694540 | intron variant | T/C | snv | 5.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 164161744 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 5 | 33083283 | intron variant | A/C;G | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 14 | 31849939 | intron variant | A/G | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 166089843 | intergenic variant | C/A | snv | 6.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 164159224 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164160251 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164159378 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 118579777 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 121837124 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.040 | 11 | 98834502 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 7 | 15296311 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 207851475 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 53409327 | intron variant | T/A;C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 |