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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 19 | 44738850 | intergenic variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 44734556 | intergenic variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 19 | 44953923 | non coding transcript exon variant | T/C | snv | 0.80 | 0.51 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 19 | 44859410 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.240 | 21 | 42421219 | intron variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 11 | 2163618 | upstream gene variant | G/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.120 | 22 | 21662102 | non coding transcript exon variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.360 | 4 | 6268329 | upstream gene variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 6 | 20657333 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.200 | 16 | 28528527 | downstream gene variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 1.000 | 0.040 | 19 | 44945208 | missense variant | T/A;G | snv | 3.6E-05; 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 11 | 86109035 | regulatory region variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.120 | 15 | 38614840 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 11 | 86147496 | intergenic variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2009 | 2009 |