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 | 1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 11 | 118159083 | non coding transcript exon variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 11 | 118159371 | non coding transcript exon variant | G/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 11 | 116903485 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
7 | 0.925 | 0.160 | 11 | 61813163 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 17 | 27244140 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 5 | 151678618 | intron variant | G/A | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 12 | 57619392 | 3 prime UTR variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 8 | 20011460 | intergenic variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 116881503 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 11 | 123863875 | upstream gene variant | T/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 5 | 75502331 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 16 | 67888439 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 75321018 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 20973240 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 11 | 47285034 | missense variant | G/A;C | snv | 0.26; 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 75600973 | 3 prime UTR variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 48264704 | missense variant | C/T | snv | 0.52 | 0.46 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.925 | 0.080 | 19 | 11084354 | downstream gene variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 15 | 58406811 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 11 | 116751247 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 |