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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 4 | 29322410 | intergenic variant | T/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 12 | 94793846 | intergenic variant | T/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 24064827 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.040 | 1 | 206842612 | missense variant | T/C;G | snv | 0.71; 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 8 | 1203645 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 2 | 233749337 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233747994 | non coding transcript exon variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 4 | 29332870 | intergenic variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 12 | 68253559 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 12 | 6800276 | intron variant | T/C | snv | 0.59 | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 8 | 117750197 | intergenic variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 233741916 | non coding transcript exon variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 20 | 3977969 | intron variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 4 | 29333941 | intergenic variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233756119 | non coding transcript exon variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 135121473 | downstream gene variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 80667356 | intergenic variant | T/C | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 80670259 | intergenic variant | T/C | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 48345739 | intergenic variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
15 | 0.763 | 0.400 | 6 | 31306603 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 5 | 11047569 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 2 | 233764076 | intron variant | T/A;G | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 |