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: 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: 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: 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: 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: 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
dbSNP: rs1447119000
rs1447119000
2 0.925 0.120 22 42130763 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1457049406
rs1457049406
4 0.851 0.200 22 19962555 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2008 2008
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2002 2002
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.010 1.000 1 2007 2007
dbSNP: rs1890196
rs1890196
2 0.925 0.120 1 66337397 intron variant C/G;T snv 0.010 1.000 1 2010 2010