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: rs140372565
rs140372565
LIMA1
1 12 50248679 missense variant G/T snv 3.2E-04 7.7E-05 0.700 0
dbSNP: rs1555205375
rs1555205375
LIMA1
1 12 50200826 frameshift variant CTCCTTTT/- delins 0.700 0