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: rs34507830
rs34507830
1 1.000 0.080 11 69646918 intron variant C/T snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs1340132260
rs1340132260
2 0.925 0.080 11 69641336 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2010 2010