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: 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: rs1553815019
rs1553815019
EVC2
2 0.925 0.120 4 5574684 splice donor variant C/T snv 0.700 1.000 1 2009 2009
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: rs1553873969
rs1553873969
CRMP1 ; EVC
2 0.925 0.160 4 5748262 frameshift variant -/AGCC delins 0.700 1.000 1 2013 2013
dbSNP: rs748523193
rs748523193
EVC
2 0.925 0.120 4 5729369 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
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: rs769864196
rs769864196
EVC2
3 0.882 0.120 4 5631795 stop gained G/A snv 3.2E-05 4.9E-05 0.700 1.000 1 2007 2007
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
dbSNP: rs886037764
rs886037764
EVC2
1 1.000 0.120 4 5576371 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs909612975
rs909612975
CRMP1 ; EVC
1 1.000 0.120 4 5793606 splice acceptor variant A/G snv 6.4E-06 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs992326794
rs992326794
EVC2
1 1.000 0.120 4 5708315 frameshift variant -/CCCCG delins 7.1E-06 0.700 1.000 1 2007 2007
dbSNP: rs1007534611
rs1007534611
CRMP1 ; EVC
1 1.000 0.120 4 5809612 splice donor variant G/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1169539647
rs1169539647
CRMP1 ; EVC
1 1.000 0.120 4 5809611 splice donor variant G/- delins 0.700 0
dbSNP: rs1214848359
rs1214848359
EVC2
1 1.000 0.120 4 5697648 splice acceptor variant C/A snv 7.0E-06 0.700 0
dbSNP: rs121908424
rs121908424
CRMP1 ; EVC
1 1.000 0.120 4 5808274 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1221185345
rs1221185345
EVC2
2 0.925 0.160 4 5708363 frameshift variant GATCCCGGGG/- delins 0.700 0
dbSNP: rs1294715119
rs1294715119
EVC2
1 1.000 0.120 4 5685368 splice donor variant A/G snv 0.700 0