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: rs4149601
rs4149601
8 0.882 0.160 18 58149559 splice region variant G/A snv 0.28 0.33 0.020 1.000 2 2011 2014