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: rs886043118
rs886043118
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018