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 | 5 | 88477501 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
7 | 0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 2 | 65049318 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 26542619 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.030 | 1.000 | 3 | 2014 | 2015 | |||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 8 | 58399138 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 9 | 122375416 | 5 prime UTR variant | A/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 17 | 63487006 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.020 | 0.500 | 2 | 2005 | 2012 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.030 | 0.667 | 3 | 2005 | 2012 | ||||
|
12 | 0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 17 | 78796097 | 3 prime UTR variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.040 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 9 | 14735055 | 3 prime UTR variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 4868325 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 |