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: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2019 2019
dbSNP: rs33932899
rs33932899
SOCS1 ; RMI2 ; LOC105371082
4 0.851 0.240 16 11254354 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs243330
rs243330
SOCS1 ; RMI2 ; LOC105371082
4 0.851 0.240 16 11257134 intron variant C/T snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs549858786
rs549858786
IL1B
10 0.790 0.320 2 112836807 5 prime UTR variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 0.667 3 2008 2010
dbSNP: rs7895340
rs7895340
TCF7L2
4 0.851 0.160 10 113041766 intron variant G/A snv 0.53 0.010 < 0.001 1 2008 2008
dbSNP: rs549591993
rs549591993
F7
12 0.776 0.400 13 113105794 5 prime UTR variant C/A snv 4.0E-04 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs537765533
rs537765533
IL1RN
3 0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
dbSNP: rs16881446
rs16881446
HS3ST1
2 0.925 0.040 4 11406961 intron variant T/C snv 0.27 0.700 1.000 1 2004 2004
dbSNP: rs12347433
rs12347433
TNC ; DELEC1
3 0.882 0.040 9 115035318 synonymous variant T/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs3135506
rs3135506
APOA5
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs1264352930
rs1264352930
APOA1 ; APOA1-AS
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.020 1.000 2 2012 2015
dbSNP: rs1384889210
rs1384889210
APOA1 ; APOA1-AS
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 < 0.001 1 2017 2017
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2002 2012
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs6903956
rs6903956
ADTRP
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs915014
rs915014
MTHFR ; C1orf167
2 0.925 0.040 1 11789412 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 2000 2013
dbSNP: rs198389
rs198389
NPPB
10 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 0.010 1.000 1 2017 2017