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: rs3197999
rs3197999
7 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.820 1.000 5 2008 2017
dbSNP: rs9822268
rs9822268
1 0.925 0.040 3 49682296 intron variant G/A;T snv 0.800 1.000 1 2011 2011