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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 6 | 33080884 | missense variant | A/G | snv | 0.18 | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.320 | 6 | 33299895 | 3 prime UTR variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.240 | 3 | 98798169 | 3 prime UTR variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.240 | 9 | 70548684 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.240 | 6 | 30062912 | intron variant | C/A | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.240 | 1 | 228276575 | missense variant | T/C | snv | 0.68 | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.240 | 1 | 228317967 | missense variant | C/A;G;T | snv | 4.0E-06; 0.69; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.240 | 6 | 30912980 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.400 | 6 | 30893223 | intron variant | C/T | snv | 0.32 | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.240 | 19 | 15114537 | 3 prime UTR variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.240 | 3 | 98886146 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.240 | 3 | 98799533 | missense variant | C/T | snv | 2.1E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.240 | 2 | 114156886 | intergenic variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.320 | 6 | 33305078 | missense variant | G/C | snv | 0.56 | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.240 | 19 | 15115800 | non coding transcript exon variant | C/A | snv | 0.66 | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.240 | 6 | 30951924 | synonymous variant | T/C | snv | 0.32 | 0.28 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.280 | 6 | 33088122 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.360 | 6 | 32440958 | intron variant | A/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.400 | 1 | 228344451 | intron variant | T/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.240 | 2 | 69821402 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.240 | 6 | 33080884 | missense variant | ATG/GTA | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.400 | 9 | 95297574 | intron variant | T/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.240 | 11 | 60087912 | upstream gene variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 |