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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.877 81 2005 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.964 28 2001 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.905 21 2004 2018
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.850 0.889 9 2010 2019
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.070 1.000 7 2004 2015
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.070 0.714 7 2009 2020
dbSNP: rs2240340
rs2240340
PADI4
1 1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54 0.770 1.000 7 2008 2017
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.060 0.667 6 2008 2019
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.050 0.800 5 2008 2018
dbSNP: rs10919563
rs10919563
PTPRC
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.740 1.000 5 2010 2016
dbSNP: rs1343151
rs1343151
IL23R
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.050 1.000 5 2009 2020
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.050 1.000 5 2010 2018
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.050 1.000 5 2006 2016
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.040 1.000 4 2011 2019
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.040 0.500 4 2010 2017
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.810 0.750 4 2008 2019
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.800 1.000 4 2007 2019
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.730 1.000 4 2010 2012
dbSNP: rs10489629
rs10489629
IL23R ; C1orf141
5 0.827 0.240 1 67222666 intron variant T/C snv 0.48 0.030 1.000 3 2012 2020
dbSNP: rs11203366
rs11203366
PADI4
2 0.925 0.200 1 17331039 missense variant G/A snv 0.56 0.55 0.720 1.000 3 2007 2017
dbSNP: rs1748033
rs1748033
PADI4
2 0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06 0.030 1.000 3 2014 2018
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2010 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.667 3 2007 2018
dbSNP: rs2240335
rs2240335
PADI4
1 1.000 0.120 1 17348042 synonymous variant C/A snv 0.39 0.37 0.810 1.000 3 2011 2019
dbSNP: rs2301888
rs2301888
PADI4
1 1.000 0.120 1 17346235 intron variant G/A snv 0.31 0.800 1.000 3 2014 2019