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 1 2018 2018
dbSNP: rs3919627
rs3919627
2 3 42867668 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018