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: 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: 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: 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 2 2007 2013
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: 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: rs1017946059
rs1017946059
EVC
2 0.925 0.160 4 5731657 missense variant G/A snv 8.1E-06 7.0E-06 0.700 1.000 1 2010 2010
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 1 2000 2000
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 1 2009 2009
dbSNP: rs1221185345
rs1221185345
EVC2
2 0.925 0.160 4 5708363 frameshift variant GATCCCGGGG/- delins 0.700 0
dbSNP: rs137852924
rs137852924
EVC2
3 0.882 0.160 4 5640789 stop gained G/A snv 4.8E-05 3.5E-05 0.700 0
dbSNP: rs137852927
rs137852927
EVC2
2 0.925 0.160 4 5576247 stop gained G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs1446547358
rs1446547358
CRMP1 ; EVC
2 0.925 0.160 4 5798724 stop gained C/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1553833239
rs1553833239
EVC2
2 0.925 0.160 4 5622993 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553873969
rs1553873969
CRMP1 ; EVC
2 0.925 0.160 4 5748262 frameshift variant -/AGCC delins 0.700 0
dbSNP: rs1560121645
rs1560121645
EVC2
1 1.000 0.120 4 5562970 stop gained C/A snv 0.700 0
dbSNP: rs1560340993
rs1560340993
CRMP1 ; EVC
2 0.925 0.160 4 5753048 frameshift variant C/- delins 0.700 0
dbSNP: rs587776568
rs587776568
EVC2
1 1.000 0.120 4 5562982 frameshift variant G/- del 0.700 0
dbSNP: rs748820015
rs748820015
EVC2
2 0.925 0.160 4 5694444 stop gained G/C;T snv 1.2E-05 0.700 0
dbSNP: rs751356206
rs751356206
EVC2
2 0.925 0.160 4 5622775 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs755381180
rs755381180
EVC
3 0.882 0.160 4 5745303 inframe deletion AAG/- delins 1.6E-05 2.8E-05 0.700 0
dbSNP: rs774416029
rs774416029
EVC2
2 0.925 0.160 4 5694392 frameshift variant -/A delins 4.0E-06 0.700 0