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: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2012 2012
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: 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
dbSNP: rs2276020
rs2276020
AIP ; MIR6752
2 1.000 0.120 11 67490085 missense variant C/G;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2302615
rs2302615
ODC1 ; SNORA80B ; ODC1-DT
7 0.807 0.120 2 10448012 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2720574
rs2720574
PDGFRL
1 8 17578682 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2838958
rs2838958
SLC19A1
3 1.000 0.080 21 45528653 intron variant G/A snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs2855798
rs2855798
KCNJ1 ; LOC107984409
1 11 128863066 intron variant G/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.010 1.000 1 2016 2016
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.030 1.000 3 2010 2015
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.020 1.000 2 2010 2012
dbSNP: rs370574590
rs370574590
PCSK9
2 1.000 0.080 1 55058628 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs371918069
rs371918069
GCM2
2 1.000 6 10874372 missense variant C/T snv 5.6E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.020 1.000 2 2009 2013
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3842787
rs3842787
PTGS1
11 0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs386352318
rs386352318
KCNJ5
4 0.925 0.080 11 128911776 missense variant T/G snv 0.020 1.000 2 2012 2012
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: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
dbSNP: rs386834263
rs386834263
CACNA1D
1 3 53673113 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
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: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs4648310
rs4648310
PTGS2
1 1 186671393 downstream gene variant T/C;G snv 0.010 1.000 1 2009 2009