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 0.950 80 2004 2020
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.080 1.000 8 1996 2018
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.810 1.000 5 2007 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 1999 2006
dbSNP: rs3024505
rs3024505 		10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.800 1.000 3 2009 2015
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 2012 2013
dbSNP: rs559047
rs559047 		2 1.000 0.120 1 238590616 intergenic variant T/A;C snv 0.720 0.500 2 2018 2020
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs10914542
rs10914542
LCK
2 0.925 0.120 1 32262639 intron variant C/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs10918706
rs10918706
CD247
2 0.925 0.200 1 167496884 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2013 2013
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 2000 2000
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2008 2008
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1214611
rs1214611
CD247
2 0.925 0.200 1 167479867 intron variant A/G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs1217385
rs1217385
AP4B1-AS1
1 1.000 0.120 1 113875583 intron variant A/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1217412
rs1217412
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113814589 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs1217419
rs1217419
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113859282 intron variant T/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12566340
rs12566340
BCL2L15 ; AP4B1-AS1
3 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1450261764
rs1450261764
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113856592 missense variant G/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2010 2010
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.700 1.000 1 2015 2015