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: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2009 2009
dbSNP: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.010 1.000 1 2013 2013
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 1.000 1 2007 2007
dbSNP: rs7590387
rs7590387
3 0.882 0.120 2 237913557 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2009 2009