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: rs2238675
rs2238675
4 19 19225799 intron variant C/T snv 9.4E-02 0.800 1.000 3 2012 2019
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.800 1.000 2 2012 2016
dbSNP: rs10402729
rs10402729
4 19 19244291 intron variant T/C snv 3.3E-02 0.700 1.000 1 2012 2012