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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.840 1.000 6 2009 2016
dbSNP: rs1042026
rs1042026
2 1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24 0.800 1.000 2 2010 2012
dbSNP: rs17033
rs17033
3 0.925 0.080 4 99307788 3 prime UTR variant T/C snv 9.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013