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 | 1 | 169491488 | non coding transcript exon variant | A/G | snv | 0.92 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 169382306 | intron variant | A/C;G | snv | 5.9E-03; 6.2E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169510736 | downstream gene variant | C/T | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
1 | 1 | 9278630 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 170885468 | intron variant | C/T | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170254627 | intron variant | T/C | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 168741790 | intron variant | C/A;T | snv | 6.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 1 | 169101212 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1 | 169355555 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 170366687 | downstream gene variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 169825364 | intron variant | A/G | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170123530 | intergenic variant | T/G | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 114120337 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 65230247 | 3 prime UTR variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 82342193 | intron variant | C/T | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 169121510 | intron variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 230850661 | intron variant | G/T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1 | 169689987 | intron variant | C/T | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170621629 | intron variant | A/G | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 |