Source: ALL
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.
dbSNP: rs1017946059
rs1017946059
EVC
2 0.925 0.160 4 5731657 missense variant G/A snv 8.1E-06 7.0E-06 0.800 1.000 2 2010 2013
dbSNP: rs137852926
rs137852926
EVC2
1 1.000 0.120 4 5681282 missense variant A/C snv 8.0E-06 0.800 1.000 2 2002 2003
dbSNP: rs137852924
rs137852924
EVC2
3 0.882 0.160 4 5640789 stop gained G/A snv 4.8E-05 3.5E-05 0.710 1.000 3 2010 2012
dbSNP: rs770918273
rs770918273
EVC2
1 1.000 0.120 4 5622554 stop gained C/T snv 2.0E-05 1.4E-05 0.710 1.000 1 2012 2012
dbSNP: rs137852927
rs137852927
EVC2
2 0.925 0.160 4 5576247 stop gained G/A snv 8.0E-05 7.7E-05 0.700 1.000 4 2002 2015
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 1.000 3 2000 2018
dbSNP: rs121908426
rs121908426
EVC
2 0.925 0.160 4 5745321 missense variant T/C snv 4.8E-05 7.0E-06 0.700 1.000 3 2000 2013
dbSNP: rs200300612
rs200300612
EVC2
2 0.925 0.160 4 5565256 splice donor variant A/G snv 3.2E-05 2.8E-05 0.700 1.000 3 2007 2013
dbSNP: rs35953626
rs35953626
CRMP1 ; EVC
1 1.000 0.120 4 5753797 missense variant G/A snv 1.8E-02 7.1E-02 0.700 1.000 3 2000 2010
dbSNP: rs781096099
rs781096099
EVC2
2 0.925 0.160 4 5694333 splice donor variant A/C;G snv 8.0E-06 0.700 1.000 3 2007 2009
dbSNP: rs794726665
rs794726665
CRMP1 ; EVC
2 0.925 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06 0.700 1.000 3 2000 2013
dbSNP: rs1236566474
rs1236566474
EVC2
1 1.000 0.120 4 5685441 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2007 2009
dbSNP: rs137852928
rs137852928
EVC2
1 1.000 0.120 4 5584832 missense variant G/A;T snv 1.6E-04; 4.0E-06 0.700 1.000 2 2002 2003
dbSNP: rs1424976594
rs1424976594
CRMP1 ; EVC
1 1.000 0.120 4 5810453 splice region variant A/G snv 8.5E-06 0.700 1.000 2 2013 2017
dbSNP: rs146538906
rs146538906
EVC2
1 1.000 0.120 4 5618531 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 2 2011 2016
dbSNP: rs1553857801
rs1553857801
EVC ; EVC2
1 1.000 0.120 4 5711382 start lost T/A snv 0.700 1.000 2 2009 2017
dbSNP: rs1553889992
rs1553889992
CRMP1 ; EVC
1 1.000 0.120 4 5793644 stop gained C/T snv 0.700 1.000 2 2007 2010
dbSNP: rs527255616
rs527255616
EVC
2 0.925 0.160 4 5745274 frameshift variant -/T delins 1.6E-05; 4.0E-06 7.0E-06 0.700 1.000 2 2007 2009
dbSNP: rs548681312
rs548681312
EVC2
1 1.000 0.120 4 5622562 stop gained G/A snv 8.0E-06 0.700 1.000 2 2009 2016
dbSNP: rs73198165
rs73198165
EVC2
1 1.000 0.120 4 5625766 stop gained G/A;T snv 3.2E-05; 3.9E-03 0.700 1.000 2 2009 2012
dbSNP: rs751356206
rs751356206
EVC2
2 0.925 0.160 4 5622775 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2007 2015
dbSNP: rs753014919
rs753014919
CRMP1 ; EVC
2 0.925 0.160 4 5783682 frameshift variant C/- del 1.2E-04 0.700 1.000 2 2007 2013
dbSNP: rs760382778
rs760382778
EVC2
2 0.925 0.160 4 5618564 stop gained G/A snv 1.2E-05 2.1E-05 0.700 1.000 2 2009 2015
dbSNP: rs767072839
rs767072839
EVC2
1 1.000 0.120 4 5663228 stop gained T/A;C snv 4.0E-06 5.6E-05 0.700 1.000 2 2009 2013
dbSNP: rs886037763
rs886037763
EVC2
1 1.000 0.120 4 5615505 frameshift variant T/- delins 4.0E-06 0.700 1.000 2 2007 2016