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: 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
dbSNP: rs2015586
rs2015586
2 0.925 0.120 10 117262226 intron variant C/T snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs201934979
rs201934979
3 0.882 0.160 15 74749838 missense variant C/T snv 8.8E-05; 8.0E-06 1.3E-04 0.010 1.000 1 2006 2006
dbSNP: rs2603751
rs2603751
2 0.925 0.120 12 52059498 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs265975
rs265975
2 0.925 0.120 5 175435192 downstream gene variant C/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs2701124
rs2701124
2 0.925 0.120 12 52054373 synonymous variant G/A;C snv 9.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs363224
rs363224
2 0.925 0.120 10 117263062 intron variant C/A snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs37364
rs37364
2 0.925 0.120 5 35072278 intron variant T/G snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs3755557
rs3755557
6 0.807 0.280 3 120096110 non coding transcript exon variant T/A snv 0.14 0.010 1.000 1 2010 2010