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: rs121917832
rs121917832
3 0.925 0.200 12 12718066 stop gained G/A snv 0.010 1.000 1 2015 2015