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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 8 | 19958727 | intron variant | A/C | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
13 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 7 | 44191617 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 230171436 | intron variant | T/A;C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 21 | 43359800 | intron variant | C/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 2 | 168926370 | intron variant | A/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 2 | 20923592 | intergenic variant | C/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 7 | 15025359 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 2 | 55616277 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 8 | 19987865 | TF binding site variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 9 | 127857358 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 16 | 67877614 | synonymous variant | T/C | snv | 0.23 | 0.32 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 18 | 442441 | intron variant | C/T | snv | 0.16 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.710 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 14 | 51489516 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 12 | 110895818 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 116896183 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 |