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: rs8176919
rs8176919
1 16 3656696 missense variant G/A snv 7.4E-03 2.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs9928274
rs9928274
1 16 3651823 5 prime UTR variant T/C snv 2.7E-02 0.700 1.000 1 2012 2012