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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.030 1.000 3 2008 2019
dbSNP: rs7837328
rs7837328
POU5F1B ; CASC8 ; PCAT1
8 0.882 0.120 8 127410882 intron variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs2855798
rs2855798
KCNJ1 ; LOC107984409
1 11 128863066 intron variant G/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs386352319
rs386352319
KCNJ5
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs386352318
rs386352318
KCNJ5
4 0.925 0.080 11 128911776 missense variant T/G snv 0.020 1.000 2 2012 2012
dbSNP: rs146462069
rs146462069
IGSF1
2 X 131278706 missense variant T/C;G snv 3.8E-05; 9.5E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2005 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2005 2019
dbSNP: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
dbSNP: rs2227999
rs2227999
XPC
1 3 14158408 missense variant C/T snv 4.2E-02 4.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs142163070
rs142163070
CYP11B1 ; GML
1 8 142877100 missense variant T/C snv 2.0E-04 4.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs4539
rs4539
CYP11B2 ; GML
4 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 0.010 1.000 1 2005 2005
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2010 2018
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs774679649
rs774679649
CRP
1 1 159713878 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2720574
rs2720574
PDGFRL
1 8 17578682 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1201299
rs1201299
TBL1XR1
1 3 177053096 intron variant C/T snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs746497256
rs746497256
NFE2L2
3 0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs6586714
rs6586714
NAT1
2 1.000 8 18216433 intron variant A/G snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs4648310
rs4648310
PTGS2
1 1 186671393 downstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2007 2011
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2007 2011