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: rs12212092
rs12212092
1 6 30160665 missense variant C/T snv 6.6E-02 0.11 0.700 1.000 1 2016 2016
dbSNP: rs148280884
rs148280884
1 6 30159781 intron variant -/AT ins 2.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs1573296
rs1573296
1 6 30160028 intron variant A/G snv 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs2022065
rs2022065
2 1.000 0.120 6 30153683 3 prime UTR variant C/T snv 0.30 0.27 0.700 1.000 1 2016 2016