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: rs689
rs689
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.720 1.000 3 2016 2019
dbSNP: rs121908279
rs121908279
3 0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05 0.010 1.000 1 2008 2008