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: rs72796367
rs72796367
5 0.821 0.107 16 50728860 intron variant T/C snp 2.2E-02 0.700 1 2017 2017
dbSNP: rs5743293
rs5743293
5 0.801 0.179 16 50729867 frameshift variant in-del 0.700 1 2017 2017
dbSNP: rs2066845
rs2066845
5 0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05 0.880 0.500 1 2002 2017