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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1 | 169542517 | missense variant | T/C | snv | 0.28 | 0.24 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||||
|
2 | 4 | 186266415 | intron variant | G/A | snv | 0.34 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||||
|
10 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 0.710 | 1.000 | 2 | 2006 | 2011 | ||||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.710 | 1.000 | 2 | 2010 | 2019 | |||
|
9 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 20 | 23076845 | upstream gene variant | T/C | snv | 0.90 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 169522317 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||
|
2 | 1 | 169506814 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169459706 | intron variant | C/T | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169454860 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169327626 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
3 | 16 | 81837364 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 169521154 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 207108804 | intron variant | C/A;G | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 11 | 46739206 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 4 | 186264957 | upstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 8 | 105578478 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
10 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
8 | 9 | 133267960 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
3 | 1.000 | 0.080 | 1 | 169529596 | intron variant | T/A;C | snv | 0.94 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 0.700 | 1.000 | 2 | 2019 | 2019 |