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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 1 | 162064100 | intergenic variant | C/T | snv | 0.22 | 0.800 | 1.000 | 8 | 2009 | 2019 | ||||
|
4 | 6 | 118346359 | intergenic variant | T/C | snv | 0.40 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
3 | 1.000 | 0.120 | 11 | 2463573 | intron variant | T/A;C | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||
|
1 | 1 | 162212887 | intron variant | C/T | snv | 0.27 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
1 | 16 | 11599680 | intron variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
1 | 16 | 11597897 | intron variant | T/C | snv | 0.51 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
1 | 1 | 6219310 | missense variant | G/C | snv | 0.24 | 0.20 | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||
|
7 | 0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 | 0.800 | 1.000 | 3 | 2006 | 2019 | ||||
|
1 | 6 | 118359211 | intergenic variant | C/T | snv | 0.36 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
1 | 1 | 162163327 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 1 | 169101212 | intron variant | T/C | snv | 0.16 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 11 | 2468112 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
2 | 1 | 162143120 | intron variant | C/G | snv | 0.18 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
2 | 7 | 150925074 | intergenic variant | T/C | snv | 0.16 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
1 | 16 | 58533334 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 1 | 162225948 | intron variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
1 | 1 | 169130245 | intron variant | A/G | snv | 0.10 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
3 | 0.925 | 0.040 | 6 | 118672469 | intron variant | C/A | snv | 0.42 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
2 | 3 | 38551902 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 2 | 40530651 | intron variant | A/G | snv | 6.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 1 | 169104108 | upstream gene variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 11 | 2464890 | intron variant | T/G | snv | 0.33 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1 | 17 | 34997363 | non coding transcript exon variant | C/T | snv | 0.37 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1 | 1 | 162044842 | intergenic variant | A/G | snv | 0.48 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 7 | 150926049 | intergenic variant | C/T | snv | 0.16 | 0.800 | 1.000 | 2 | 2009 | 2019 |