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: rs12232460
rs12232460
1 16 88499645 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs74035509
rs74035509
5 16 88500925 intron variant C/T snv 0.10 0.700 1.000 1 2016 2016