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 | 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 | 8 | 37238541 | intergenic variant | G/T | snv | 0.58 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 121810339 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 4 | 164174438 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 37475966 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 110717726 | downstream gene variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 207767508 | non coding transcript exon variant | T/A | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 6 | 118346359 | intergenic variant | T/C | snv | 0.40 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 164161744 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 207955720 | upstream gene variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 6846127 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
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 | ||||||
|
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 | 2 | 231406573 | regulatory region variant | A/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 53409327 | intron variant | T/A;C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 100899511 | upstream gene variant | A/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 177815704 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 164169729 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 76083176 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |