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: rs368094521
rs368094521
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2019 2019