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: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.800 1.000 3 2009 2018
dbSNP: rs8015478
rs8015478
2 1.000 0.120 14 23116809 downstream gene variant A/C snv 0.68 0.700 1.000 1 2013 2013