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 | 11 | 115174130 | 3 prime UTR variant | C/A | snv | 0.41 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 9 | 123343012 | regulatory region variant | G/T | snv | 0.35 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 12 | 16988648 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
1 | 10 | 116913020 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
1 | 12 | 90844143 | intron variant | T/A | snv | 0.42 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 2 | 26705943 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 12 | 39036246 | intergenic variant | A/C | snv | 0.20 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 12 | 41554394 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
1 | 1 | 50094148 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 2 | 207398555 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 17 | 36558947 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||
|
1 | 8 | 94570378 | non coding transcript exon variant | A/G | snv | 0.30 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 17 | 80637924 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 5 | 139701160 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 2 | 163711179 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 11 | 113097929 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 12 | 67811824 | TF binding site variant | A/G | snv | 0.84 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 13 | 96269937 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 17 | 5377145 | synonymous variant | T/C | snv | 0.36 | 0.31 | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||
|
1 | 19 | 30454264 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 7 | 78199623 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 2 | 226171887 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 22 | 40208941 | intron variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
1 | 6 | 160353454 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
1 | 2 | 218485029 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 3 | 2015 | 2018 |