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 | 1.000 | 0.040 | 4 | 102191313 | intergenic variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 0.040 | 4 | 102225731 | intergenic variant | A/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 102431844 | intron variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 10 | 102664043 | downstream gene variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 102852578 | intron variant | T/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 10 | 103016151 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 10 | 103153896 | intron variant | G/A | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 14 | 103580497 | intron variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 10373659 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 14 | 103738786 | synonymous variant | G/A | snv | 8.0E-02 | 8.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 14 | 103798325 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 104249635 | intergenic variant | G/A;C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 5 | 104676602 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 10 | 104804166 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 105103772 | non coding transcript exon variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.040 | 8 | 105130105 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 7 | 105212207 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 7 | 105263212 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 8 | 10719265 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.040 | 13 | 108016199 | intergenic variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 13 | 109501681 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 109678809 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 |