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: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2017 2018
dbSNP: rs386675647
rs386675647
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.010 1.000 1 2018 2018