Source: ALL
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: rs1057518925
rs1057518925
4 21 46114006 splice acceptor variant A/G snp 0.700 1 2015 2015
dbSNP: rs16944
rs16944
30 0.652 0.464 2 112837290 regulatory region variant A/G snp 0.58 0.020 0.500 2 2012 2013
dbSNP: rs1800795
rs1800795
58 0.580 0.607 7 22727026 intron variant C/G snp 0.68 0.020 1.000 2 2012 2013
dbSNP: rs1041981
rs1041981
18 0.692 0.357 6 31573007 stop gained C/A snp 0.35 0.39 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2012 2012
dbSNP: rs104894422
rs104894422
10 0.784 0.214 13 23324513 missense variant G/A snp 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1071676
rs1071676
1 2 112829856 3 prime UTR variant C/G snp 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1082214
rs1082214
MIP
5 0.923 0.071 12 56452706 non coding transcript exon variant C/T snp 8.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs1143627
rs1143627
18 0.724 0.500 2 112836810 5 prime UTR variant G/A snp 0.56 0.010 1.000 1 2015 2015
dbSNP: rs11904814
rs11904814
3 0.923 0.071 2 207562074 intron variant T/G snp 0.31 0.010 1.000 1 2010 2010
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.010 1.000 1 2009 2009
dbSNP: rs12229394
rs12229394
3 0.923 0.071 12 71999134 intron variant G/A snp 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs1800629
rs1800629
TNF
69 0.549 0.786 6 31575254 intergenic variant G/A snp 0.12 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1800683
rs1800683
4 0.878 0.143 6 31572294 5 prime UTR variant G/A snp 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1991517
rs1991517
7 0.821 0.107 14 81144239 missense variant G/C snp 0.90 0.90 0.010 1.000 1 2013 2013
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2228145
rs2228145
32 0.647 0.500 1 154454494 missense variant A/C,T snp 0.38; 1.2E-05 0.30 0.010 1.000 1 2012 2012
dbSNP: rs224222
rs224222
6 0.821 0.179 16 3254463 missense variant C/T snp 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs2243274
rs2243274
4 0.878 0.071 5 132679140 intron variant G/A snp 0.36 0.010 1.000 1 2015 2015
dbSNP: rs2287396
rs2287396
1 14 77327849 non coding transcript exon variant C/T snp 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2295633
rs2295633
4 0.923 0.071 1 46408711 intron variant A/G,T snp 0.59 0.010 1.000 1 2010 2010
dbSNP: rs2794521
rs2794521
CRP
5 0.878 0.179 1 159715306 intergenic variant C/T snp 0.78 0.010 1.000 1 2012 2012
dbSNP: rs3087243
rs3087243
19 0.715 0.357 2 203874196 intergenic variant G/A snp 0.35 0.010 1.000 1 2014 2014