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: rs1555984304
rs1555984304
2 1.000 21 37490340 frameshift variant C/- del 0.700 1.000 18 1990 2016
dbSNP: rs1555985642
rs1555985642
2 1.000 21 37493100 stop gained G/A snv 0.700 1.000 18 1990 2016