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: 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: rs4790953
rs4790953
4 0.851 0.160 17 65230912 downstream gene variant A/C snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs7669317
rs7669317
2 0.925 0.120 4 105536173 downstream gene variant T/C snv 2.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 < 0.001 1 2019 2019
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: 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: 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: 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: 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: 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: rs1457049406
rs1457049406
4 0.851 0.200 22 19962555 missense variant C/T snv 0.010 1.000 1 2008 2008
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: rs762551
rs762551
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.010 1.000 1 2015 2015
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: rs1447119000
rs1447119000
2 0.925 0.120 22 42130763 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs4532
rs4532
7 0.827 0.160 5 175443147 5 prime UTR variant C/T snv 0.68 0.72 0.010 1.000 1 2011 2011
dbSNP: rs5326
rs5326
6 0.851 0.160 5 175443193 5 prime UTR variant C/T snv 0.15 0.010 1.000 1 2011 2011
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: 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: 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: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.010 < 0.001 1 2007 2007
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: rs4739217
rs4739217
2 0.925 0.120 8 21727549 intron variant G/C snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs6587002
rs6587002
2 0.925 0.120 8 21723708 intron variant T/C;G snv 0.010 1.000 1 2010 2010