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: 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: 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: 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: 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: 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: 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
dbSNP: rs1159758018
rs1159758018
EVC2
1 1.000 0.120 4 5631845 frameshift variant TCCC/- del 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1262933856
rs1262933856
CRMP1 ; EVC
1 1.000 0.120 4 5793607 splice acceptor variant G/A snv 6.4E-06 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1553850677
rs1553850677
EVC2
1 1.000 0.120 4 5685417 stop gained C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1553871792
rs1553871792
EVC
1 1.000 0.120 4 5741760 frameshift variant -/A delins 0.700 1.000 1 2013 2013
dbSNP: rs753581033
rs753581033
EVC2
1 1.000 0.120 4 5563115 frameshift variant G/- del 2.0E-05 0.700 1.000 1 2009 2009
dbSNP: rs755789146
rs755789146
EVC2
1 1.000 0.120 4 5665626 splice acceptor variant GCCGTGGTGCGGCAGAACCTGTGGAG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs760607210
rs760607210
CRMP1 ; EVC
1 1.000 0.120 4 5753840 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs763363403
rs763363403
EVC2
1 1.000 0.120 4 5665578 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs764397417
rs764397417
CRMP1 ; EVC
1 1.000 0.120 4 5783666 stop gained G/T snv 4.0E-06 0.700 1.000 1 2009 2009
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: rs772840335
rs772840335
EVC2
1 1.000 0.120 4 5640597 frameshift variant TT/- del 4.0E-06 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs777505711
rs777505711
EVC2
1 1.000 0.120 4 5665627 frameshift variant T/- del 0.700 1.000 1 2007 2007
dbSNP: rs779915989
rs779915989
CRMP1 ; EVC
1 1.000 0.120 4 5748268 stop gained G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2009 2009