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: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2015 2018
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2009 2014
dbSNP: rs2144300
rs2144300
GALNT2
7 0.882 0.040 1 230159169 intron variant C/T snv 0.44 0.710 1.000 2 2011 2013
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2013 2013
dbSNP: rs2794521
rs2794521
CRP
15 0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 0.020 1.000 2 2009 2014
dbSNP: rs374644
rs374644 		1 1.000 0.040 1 225918985 intron variant G/T snv 0.020 0.500 2 2018 2019
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.020 1.000 2 2012 2014
dbSNP: rs6020
rs6020
F5
3 0.882 0.040 1 169549874 missense variant C/T snv 0.11 0.12 0.020 1.000 2 2000 2000
dbSNP: rs6131
rs6131
SELP
4 0.851 0.200 1 169611647 missense variant C/T snv 0.20 0.22 0.020 1.000 2 2007 2014
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 2 2012 2016
dbSNP: rs10159239
rs10159239
NLRP3
3 0.882 0.040 1 247443750 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs10218795
rs10218795
HJV
1 1.000 0.040 1 146018957 intron variant G/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10399931
rs10399931
CHI3L1
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1044925
rs1044925
SOAT1
6 0.827 0.120 1 179354603 3 prime UTR variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1050993
rs1050993
MTR
1 1.000 0.040 1 236899005 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1061160
rs1061160
EPRS1
1 1.000 0.040 1 219981426 synonymous variant C/T snv 0.35 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1061248
rs1061248
EPRS1
1 1.000 0.040 1 219968681 3 prime UTR variant C/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10918859
rs10918859
NOS1AP
3 0.882 0.040 1 162199478 intron variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs10920501
rs10920501 		5 0.827 0.120 1 190092815 downstream gene variant A/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs10923931
rs10923931
NOTCH2
3 0.925 0.120 1 119975336 intron variant G/T snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
dbSNP: rs11582300
rs11582300
NES
1 1.000 0.040 1 156669961 synonymous variant G/A;C snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs12040273
rs12040273
GALNT2
3 0.882 0.040 1 230063651 intron variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs12042319
rs12042319
DOCK7
6 1.000 0.040 1 62584148 3 prime UTR variant G/A snv 0.36 0.010 1.000 1 2012 2012