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: 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: 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: 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: rs755789146
rs755789146
EVC2
1 1.000 0.120 4 5665626 splice acceptor variant GCCGTGGTGCGGCAGAACCTGTGGAG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs777505711
rs777505711
EVC2
1 1.000 0.120 4 5665627 frameshift variant T/- del 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: 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: 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
dbSNP: rs1300178432
rs1300178432
CRMP1 ; EVC
1 1.000 0.120 4 5756258 splice acceptor variant CAGGCTTTTCA/- delins 7.0E-06 0.700 0
dbSNP: rs1305301849
rs1305301849
EVC2
1 1.000 0.120 4 5565319 stop gained G/A snv 0.700 0
dbSNP: rs1307502841
rs1307502841
EVC2
1 1.000 0.120 4 5584622 splice donor variant C/T snv 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: rs1477102573
rs1477102573
EVC2
1 1.000 0.120 4 5708381 stop gained G/A snv 0.700 0
dbSNP: rs1485152854
rs1485152854
EVC
1 1.000 0.120 4 5741715 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1490912913
rs1490912913
EVC2
1 1.000 0.120 4 5625909 splice acceptor variant C/G;T snv 0.700 0