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: rs2228044
rs2228044
5 0.882 0.240 5 55968325 missense variant C/G snv 0.13 0.21 0.010 < 0.001 1 2011 2011