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: rs2932538
rs2932538
4 1 112673921 intron variant A/C;G snv 0.700 1.000 3 2011 2017
dbSNP: rs12129649
rs12129649
4 1 112688881 5 prime UTR variant G/T snv 6.6E-02 0.700 1.000 2 2017 2018
dbSNP: rs2999159
rs2999159
4 1 112688136 intron variant A/G snv 0.85 0.700 1.000 1 2018 2018