Gene: EVC2 ×
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: rs1553815019
rs1553815019
EVC2
2 0.925 0.120 4 5574684 splice donor variant C/T snv 0.700 0
dbSNP: rs1553836165
rs1553836165
EVC2
1 1.000 0.120 4 5628731 frameshift variant -/C delins 0.700 0
dbSNP: rs750396637
rs750396637
EVC2
1 1.000 0.120 4 5568590 frameshift variant CCCGGGC/- delins 1.2E-05 3.5E-05 0.700 0