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: rs5743293
rs5743293
5 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 1 2016 2016