| 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 | 6 | 97849956 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 15 | 40413218 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 4 | 2715963 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 20 | 49106590 | intergenic variant | G/C | snv | 0.47 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 3 | 50164798 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 8 | 144519045 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 16 | 71545764 | intron variant | A/C | snv | 0.71 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 16 | 24755520 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
8 | 1.000 | 0.040 | 4 | 25407216 | missense variant | G/A;T | snv | 0.15; 4.1E-06 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 5 | 88733391 | intron variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
1 | 6 | 97974115 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 7 | 133945710 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 2 | 100342342 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
2 | 3 | 49568755 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 5 | 88867954 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 10 | 102120361 | 5 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
1 | 6 | 108535175 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 5 | 88673046 | non coding transcript exon variant | A/G | snv | 0.29 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 6 | 98130339 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 2 | 100308360 | intron variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 15 | 51634611 | regulatory region variant | G/T | snv | 7.2E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 3 | 24037800 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 6 | 97756622 | intron variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
1 | 13 | 105979225 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 |