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: rs1380328511
rs1380328511
2 0.925 0.080 10 3781694 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs3750861
rs3750861
5 0.827 0.120 10 3782241 intron variant C/T snv 8.2E-02 6.6E-02 0.010 1.000 1 2007 2007