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: rs121909554
rs121909554
1 1.000 0.080 1 173904011 missense variant G/A snv 4.0E-06 0.800 1.000 21 1986 2013