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: rs200479241
rs200479241
3 0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05 0.010 1.000 1 2012 2012