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: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2016 2019
dbSNP: rs9872570
rs9872570
3 3 42855023 intron variant T/A snv 0.37 0.700 1.000 1 2016 2016