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 | 16 | 58532400 | splice region variant | G/A | snv | 0.29 | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||
|
1 | 1 | 162240820 | intron variant | C/A;G;T | snv | 0.31 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1 | 7 | 150940775 | downstream gene variant | C/T | snv | 0.26 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1 | 1 | 168720702 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||||
|
1 | 16 | 58588274 | intron variant | G/A | snv | 0.76 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1 | 3 | 38547672 | downstream gene variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 118332041 | intergenic variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 1.000 | 0.080 | 11 | 2481089 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 12 | 20378822 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 15289739 | intron variant | A/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 17 | 70498851 | regulatory region variant | G/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 13 | 62862667 | intergenic variant | A/G | snv | 0.65 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 47588423 | intergenic variant | C/A;T | snv | 0.24 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 4 | 71261172 | intron variant | C/T | snv | 0.88 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 122649500 | intergenic variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 4 | 117411099 | non coding transcript exon variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 61808380 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 4 | 148053451 | intron variant | T/C | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 3092078 | intergenic variant | C/T | snv | 0.56 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 73981078 | intergenic variant | A/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 5897581 | intergenic variant | T/C | snv | 0.46 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 65121851 | upstream gene variant | T/C | snv | 2.0E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 194606369 | intron variant | T/C | snv | 0.93 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 14 | 95656071 | intron variant | A/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 67176026 | intergenic variant | A/C;G | snv | 0.57 | 0.800 | 1.000 | 1 | 2013 | 2013 |