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: rs566433112
rs566433112
1 1.000 0.120 2 74378112 missense variant T/C snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.010 1.000 1 2018 2018