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: rs12998
rs12998
3 0.882 0.080 1 204192819 missense variant C/T snv 3.3E-02 2.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs13281615
rs13281615
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800067
rs1800067
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2132570
rs2132570
1 1.000 0.040 7 45922864 upstream gene variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs3110697
rs3110697
7 0.827 0.160 7 45915430 intron variant A/G snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs3803662
rs3803662
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs4973768
rs4973768
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs5780218
rs5780218
4 0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44 0.010 1.000 1 2015 2015
dbSNP: rs605059
rs605059
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2008 2008