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: rs1260326
rs1260326
63 0.667 0.321 2 27508073 missense variant T/C snp 0.63; 4.0E-06 0.67 0.820 0.500 4 2010 2016
dbSNP: rs964184
rs964184
41 0.756 0.286 11 116778201 3 prime UTR variant G/C snp 0.83 0.810 1.000 3 2010 2015
dbSNP: rs4635554
rs4635554
1 2 21166787 intergenic variant T/G snp 0.37 0.800 1 2010 2010
dbSNP: rs7016880
rs7016880
3 8 20019235 intergenic variant G/C snp 8.2E-02 0.800 1 2010 2010
dbSNP: rs17145738
rs17145738
7 0.923 0.143 7 73568544 intergenic variant C/T snp 0.11 0.710 1.000 2 2015 2017
dbSNP: rs1558861
rs1558861
4 11 116736721 intergenic variant C/G,T snp 0.93 0.700 1 2017 2017
dbSNP: rs6982502
rs6982502
4 0.878 0.071 8 125467120 intron variant C/T snp 0.63 0.700 1 2017 2017
dbSNP: rs780094
rs780094
44 0.699 0.286 2 27518370 intron variant T/C snp 0.67 0.700 1 2017 2017
dbSNP: rs9644568
rs9644568
4 8 20071071 intergenic variant G/A snp 0.11 0.700 1 2013 2013
dbSNP: rs9949617
rs9949617
2 18 23299253 intron variant C/T snp 0.20 0.700 1 2013 2013
dbSNP: rs2075291
rs2075291
9 0.769 0.357 11 116790676 missense variant C/A,T snp 6.4E-03; 4.0E-06 5.1E-03 0.060 1.000 6 2004 2014
dbSNP: rs3135506
rs3135506
17 0.734 0.214 11 116791691 missense variant G/A,C snp 3.0E-05; 6.8E-02 9.6E-05; 6.1E-02 0.040 1.000 4 2007 2008
dbSNP: rs2854116
rs2854116
5 0.846 0.071 11 116829453 regulatory region variant C/T snp 0.52 0.020 1.000 2 2010 2011
dbSNP: rs2854117
rs2854117
5 0.878 0.107 11 116829426 regulatory region variant T/A,C snp 0.59 0.020 1.000 2 2010 2011
dbSNP: rs387906568
rs387906568
9 0.769 0.107 19 44909020 missense variant C/G,T snp 7.3E-06; 7.3E-06 0.020 0.500 2 1993 1994
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.010 1.000 1 2003 2003
dbSNP: rs10889332
rs10889332
3 1.000 0.107 1 62485187 3 prime UTR variant C/T snp 0.38 0.010 1.000 1 2017 2017
dbSNP: rs11122316
rs11122316
2 1.000 0.107 1 230101356 intron variant A/G snp 0.42 0.010 1.000 1 2017 2017
dbSNP: rs11206517
rs11206517
3 1.000 0.107 1 55060755 intron variant T/C,G snp 8.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs11542041
rs11542041
19 0.707 0.357 19 44908690 missense variant C/T snp 6.4E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs11575937
rs11575937
17 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2001 2001
dbSNP: rs1168013
rs1168013
4 1.000 0.107 1 62531167 intron variant C/G,T snp 0.59; 3.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1169288
rs1169288
13 0.821 0.143 12 120978847 missense variant A/C,T snp 0.35 0.29; 3.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs121909397
rs121909397
3 0.923 0.071 16 869982 stop gained G/A,C snp 1.6E-04; 4.0E-06 6.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs12453407
rs12453407
1 17 37232521 intron variant A/G snp 0.35 0.010 1.000 1 2010 2010