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: 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
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: rs1363547577
rs1363547577
EVC
1 1.000 0.120 4 5729306 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1373632260
rs1373632260
CRMP1 ; EVC
1 1.000 0.120 4 5793699 missense variant T/C snv 6.4E-06 7.0E-06 0.700 0
dbSNP: rs137852925
rs137852925
EVC2
1 1.000 0.120 4 5628590 stop gained G/A snv 4.0E-06 1.4E-05 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: rs1431987950
rs1431987950
EVC2
1 1.000 0.120 4 5625832 stop gained TCTGCTTGATTGAAA/- del 8.0E-06 0.700 0
dbSNP: rs1437174284
rs1437174284
EVC
1 1.000 0.120 4 5731432 frameshift variant C/- delins 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: rs1447633595
rs1447633595
EVC2
1 1.000 0.120 4 5694334 splice donor variant C/A;G;T snv 8.0E-06; 4.0E-06 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
dbSNP: rs149898884
rs149898884
CRMP1 ; EVC
1 1.000 0.120 4 5756299 missense variant G/A snv 3.9E-04 1.6E-03 0.700 0
dbSNP: rs150814290
rs150814290
EVC
1 1.000 0.120 4 5745203 splice acceptor variant G/C snv 4.0E-06 0.700 0
dbSNP: rs1553811863
rs1553811863
EVC2
1 1.000 0.120 4 5563117 splice acceptor variant T/C snv 0.700 0