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: 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: 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: 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: 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: rs1431987950
rs1431987950
EVC2
1 1.000 0.120 4 5625832 stop gained TCTGCTTGATTGAAA/- del 8.0E-06 0.700 0
dbSNP: rs1553857828
rs1553857828
EVC ; EVC2
1 1.000 0.120 4 5711404 frameshift variant C/- del 0.700 0
dbSNP: rs778793911
rs778793911
EVC2
1 1.000 0.120 4 5568525 frameshift variant AGCAGGGCCAGCAGCTGAG/- del 4.4E-06 0.700 0
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: 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: 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: 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: rs770155116
rs770155116
DYNC2LI1
2 0.925 0.120 2 43794554 frameshift variant A/- delins 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
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: rs1169539647
rs1169539647
CRMP1 ; EVC
1 1.000 0.120 4 5809611 splice donor variant G/- delins 0.700 0
dbSNP: rs1221185345
rs1221185345
EVC2
2 0.925 0.160 4 5708363 frameshift variant GATCCCGGGG/- delins 0.700 0
dbSNP: rs1300178432
rs1300178432
CRMP1 ; EVC
1 1.000 0.120 4 5756258 splice acceptor variant CAGGCTTTTCA/- delins 7.0E-06 0.700 0
dbSNP: rs1420414097
rs1420414097
EVC2
1 1.000 0.120 4 5708306 frameshift variant CTCCGCCCCG/- delins 1.4E-05 0.700 0
dbSNP: rs1430962566
rs1430962566
EVC2
1 1.000 0.120 4 5708451 frameshift variant -/A delins 7.0E-06 0.700 0
dbSNP: rs1437174284
rs1437174284
EVC
1 1.000 0.120 4 5731432 frameshift variant C/- delins 0.700 0
dbSNP: rs146475474
rs146475474
CRMP1 ; EVC
1 1.000 0.120 4 5798662 frameshift variant -/C delins 0.700 0
dbSNP: rs1553812417
rs1553812417
EVC2
1 1.000 0.120 4 5565283 frameshift variant G/TC delins 0.700 0
dbSNP: rs1553840713
rs1553840713
EVC2
1 1.000 0.120 4 5640813 frameshift variant CC/G delins 0.700 0