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: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.100 1.000 14 2008 2018
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.100 1.000 14 2008 2018
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.030 1.000 3 2002 2014
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.030 1.000 3 2006 2015
dbSNP: rs4961
rs4961
22 0.685 0.250 4 2904980 missense variant G/A,T snp 1.2E-05; 0.20 0.17 0.030 1.000 3 2001 2008
dbSNP: rs662
rs662
71 0.561 0.607 7 95308134 missense variant T/C snp 0.38 0.41 0.030 1.000 3 2006 2014
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.020 1.000 2 2010 2013
dbSNP: rs104894845
rs104894845
5 0.846 0.143 X 101401752 missense variant C/G,T snp 5.5E-04 1.8E-04 0.020 1.000 2 2010 2014
dbSNP: rs10757278
rs10757278
15 0.724 0.143 9 22124478 intergenic variant A/G snp 0.40 0.020 1.000 2 2009 2012
dbSNP: rs1122608
rs1122608
13 0.784 0.071 19 11052925 intron variant G/T snp 0.18 0.710 1.000 2 2014 2014
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.020 1.000 2 2011 2013
dbSNP: rs11984041
rs11984041
1 7 18992312 intron variant C/T snp 0.12 0.820 1.000 2 2012 2013
dbSNP: rs1217691063
rs1217691063
29 0.652 0.571 1 11796309 missense variant A/G snp 4.0E-06 0.020 1.000 2 2017 2017
dbSNP: rs12425791
rs12425791
3 0.923 0.107 12 674318 regulatory region variant G/A,C snp 0.18; 2.6E-04 0.810 1.000 2 2009 2011
dbSNP: rs1333049
rs1333049
30 0.715 0.286 9 22125504 intergenic variant G/C snp 0.41 0.700 2 2014 2016
dbSNP: rs152312
rs152312
2 1.000 0.071 5 60491989 intron variant G/A,T snp 0.10; 4.1E-03 0.020 1.000 2 2006 2012
dbSNP: rs16851055
rs16851055
1 3 141080371 non coding transcript exon variant G/A snp 0.25 0.800 2 2012 2014
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.020 1.000 2 2002 2007
dbSNP: rs1799963
rs1799963
F2
11 0.769 0.286 11 46739505 3 prime UTR variant G/A snp 8.4E-03 0.710 1.000 2 2016 2017
dbSNP: rs2107595
rs2107595
8 0.801 0.071 7 19009765 regulatory region variant G/A snp 0.20 0.810 1.000 2 2012 2015
dbSNP: rs2200733
rs2200733
3 0.923 0.071 4 110789013 intergenic variant C/T snp 0.19 0.800 2 2008 2012
dbSNP: rs2230500
rs2230500
3 1.000 0.071 14 61457521 missense variant G/A snp 3.1E-02 2.6E-02 0.710 1.000 2 2007 2013
dbSNP: rs25531
rs25531
39 0.626 0.321 17 30237328 intergenic variant T/C snp 0.020 0.500 2 2008 2008
dbSNP: rs2910829
rs2910829
1 5 60174072 intron variant G/A snp 0.51 0.020 1.000 2 2006 2009
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 0.020 1.000 2 2008 2010