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: rs2066845
rs2066845
5 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.800 0.846 1 2002 2018
dbSNP: rs5743293
rs5743293
5 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs72796367
rs72796367
5 0.827 0.120 16 50728860 intron variant T/C snv 1.9E-02 0.700 1.000 1 2016 2016