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: rs10997875
rs10997875
4 0.882 0.080 10 67920067 downstream gene variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs12778366
rs12778366
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2009 2009
dbSNP: rs3213207
rs3213207
11 0.776 0.120 6 15627871 intron variant T/C snv 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2007 2007
dbSNP: rs4912138
rs4912138
1 1.000 0.040 1 19666992 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2015 2015
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2004 2004
dbSNP: rs6693503
rs6693503
1 1.000 0.040 1 19660801 upstream gene variant A/G snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015