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: rs80357509
rs80357509
4 0.882 0.200 17 43092046 frameshift variant T/- del 4.0E-06 7.0E-06 0.700 1.000 20 1997 2017