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: rs879253867
rs879253867
AIMP1
1 1.000 0.080 4 106328186 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs387906865
rs387906865
AIMP1
1 1.000 0.080 4 106328143 frameshift variant CA/- delins 0.700 0
dbSNP: rs724159969
rs724159969
AIMP1
1 1.000 0.080 4 106327456 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs750731609
rs750731609
AIMP1
3 0.882 0.080 4 106327501 frameshift variant A/- delins 3.2E-05 7.0E-05 0.700 0