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: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs746284240
rs746284240
11 0.763 0.240 12 68809243 missense variant A/G snv 0.010 1.000 1 2014 2014