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: rs4654932
rs4654932
2 1 21425060 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2013 2013
dbSNP: rs982393
rs982393
2 2 163634019 intron variant A/C;T snv 0.700 1.000 1 2009 2009