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: rs398123561
rs398123561
2 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs878853149
rs878853149
2 0.925 0.240 18 55350388 stop gained G/A snv 0.700 0