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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1364926780
rs1364926780
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs199516560
rs199516560
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs2273697
rs2273697
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2013 2013