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 | 16 | 55660341 | intron variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 154118718 | synonymous variant | C/T | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 14 | 77327849 | non coding transcript exon variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 99830363 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 40764955 | missense variant | G/A | snv | 7.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 8 | 26866167 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 18 | 77246982 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 117230720 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.120 | 11 | 112166930 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 12 | 117277815 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1 | 46399999 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 14 | 54893485 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 13 | 95283335 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 4 | 158703436 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 2 | 32116153 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 12 | 20711408 | missense variant | C/A;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 1 | 99913557 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.120 | 22 | 19968169 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 0.700 | 0 |