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: rs765189442
rs765189442
4 0.925 0.080 2 168995422 missense variant T/C snv 8.1E-06 0.010 < 0.001 1 2011 2011