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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.333 | 3 | 1999 | 2003 | |||||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | X | 154496001 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 35166418 | intergenic variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | X | 5561570 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 5656287 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.070 | 1.000 | 7 | 2004 | 2015 | |||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 37831814 | 3 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 1.000 | 0.080 | 21 | 37652469 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37638374 | intron variant | C/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37617262 | 3 prime UTR variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37705475 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681768 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681654 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681559 | intron variant | T/A;G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37649639 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37630840 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37710283 | intron variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37664047 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |