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 | 0.040 | 11 | 102527862 | missense variant | C/G;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 151663542 | 3 prime UTR variant | G/C;T | snv | 0.21; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 151662618 | 3 prime UTR variant | A/C;T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 151662468 | 3 prime UTR variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 1207346 | upstream gene variant | G/T | snv | 5.7E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 74121852 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 16 | 88651867 | upstream gene variant | C/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 79366394 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 4 | 150277928 | missense variant | G/A | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 2 | 201485833 | downstream gene variant | C/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 1219775 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 143757963 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 4 | 87977789 | non coding transcript exon variant | C/T | snv | 0.54 | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 1208277 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.080 | 16 | 88643304 | 3 prime UTR variant | A/G | snv | 0.62 | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 11 | 1996938 | non coding transcript exon variant | C/A;T | snv | 7.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 17 | 35878529 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.160 | 1 | 169727805 | missense variant | G/A | snv | 0.14 | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.320 | 4 | 87983034 | 3 prime UTR variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 |