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: rs662799
rs662799
4 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.800 1.000 5 2012 2019
dbSNP: rs651821
rs651821
10 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.800 1.000 4 2012 2019
dbSNP: rs2266788
rs2266788
6 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.800 1.000 2 2011 2018
dbSNP: rs2075291
rs2075291
4 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.700 1.000 3 2018 2019
dbSNP: rs3135506
rs3135506
3 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.700 1.000 2 2018 2019
dbSNP: rs9804646
rs9804646
3 11 116794363 upstream gene variant C/T snv 0.17 0.700 1.000 1 2018 2018