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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 6 | 31368124 | intron variant | A/G | snv | 9.0E-02 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 32402810 | intron variant | G/C | snv | 3.8E-02 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 10 | 6045332 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 1 | 192571891 | intron variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 16 | 62594871 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 2 | 134305027 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 124206424 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.200 | 12 | 116928726 | intron variant | C/T | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 20 | 46073481 | intron variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 17 | 59755030 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 17 | 39764941 | 3 prime UTR variant | T/C | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 20 | 63778360 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 6 | 16970739 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 14 | 75556057 | intergenic variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.060 | 1.000 | 6 | 2013 | 2019 | |||
|
8 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 6682942 | non coding transcript exon variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
36 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.882 | 0.240 | 6 | 31924707 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 21 | 25571713 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 |