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: rs864309489
rs864309489
2 0.925 0.080 6 83857301 frameshift variant T/- del 0.700 1.000 2 2015 2015