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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.100 0.800 15 1997 2012
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.090 0.778 9 2000 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.600 5 2005 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.050 0.800 5 2004 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 0.800 5 2004 2014
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.030 1.000 3 2006 2010
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.030 1.000 3 2006 2010
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.030 1.000 3 2001 2005
dbSNP: rs2445142
rs2445142
2 0.925 0.120 1 21899250 intron variant G/A;C snv 0.030 1.000 3 2010 2018
dbSNP: rs1182593032
rs1182593032
4 0.851 0.200 16 69718516 missense variant A/G snv 0.020 1.000 2 2008 2010
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 0.500 2 2008 2010
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2007 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2005 2009
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.020 0.500 2 2001 2005
dbSNP: rs767413934
rs767413934
2 0.925 0.120 11 113424539 missense variant G/A snv 4.0E-06 0.020 1.000 2 2008 2008
dbSNP: rs995922697
rs995922697
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.020 0.500 2 2006 2010
dbSNP: rs1045280
rs1045280
3 0.882 0.160 17 4719343 synonymous variant C/T snv 0.71 0.62 0.010 1.000 1 2008 2008
dbSNP: rs1065852
rs1065852
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2006 2006
dbSNP: rs10828317
rs10828317
9 0.776 0.280 10 22550699 missense variant T/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1231813088
rs1231813088
4 0.851 0.160 10 92690015 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1322425552
rs1322425552
4 0.851 0.160 17 74923048 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1322643228
rs1322643228
6 0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs1330075052
rs1330075052
3 0.882 0.160 12 104215828 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1338719
rs1338719
2 0.925 0.120 1 66183851 intron variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs1402139464
rs1402139464
3 0.882 0.160 11 27701009 5 prime UTR variant G/A;T snv 8.4E-06 0.010 1.000 1 2009 2009