| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 4 | 164159680 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164156960 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 172067378 | intron variant | G/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 6 | 36799290 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 12 | 38712929 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 19 | 32103916 | non coding transcript exon variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 12 | 33424055 | intron variant | A/C;T | snv | 0.70 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 6 | 42088268 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 12 | 75962050 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 2 | 178921341 | intron variant | T/C | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 7 | 6163445 | 3 prime UTR variant | C/A | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 5 | 137859073 | non coding transcript exon variant | A/G | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 164177450 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164180839 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 3 | 179455191 | upstream gene variant | G/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 8 | 95439207 | intron variant | C/A | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 134945091 | intergenic variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 1 | 18790006 | intergenic variant | G/A | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 18784584 | intergenic variant | G/A | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 164154356 | intron variant | A/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 82153198 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 5 | 173237160 | upstream gene variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 4 | 164156275 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164155752 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164148204 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 |