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: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.020 1.000 2 2007 2009
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs2228146
rs2228146
3 0.925 0.120 1 154454574 missense variant G/A snv 1.3E-02; 4.0E-06 5.4E-02 0.010 1.000 1 2005 2005