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: rs765798193
rs765798193
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.020 1.000 2 2012 2014