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: rs4693608
rs4693608
HPSE
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.020 1.000 2 2010 2014
dbSNP: rs10737416
rs10737416
LOC105373109
1 1.000 0.040 1 224887055 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1367967034
rs1367967034
NOD2
2 1.000 0.040 16 50707959 splice region variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs17114808
rs17114808
SUFU
2 0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17582214
rs17582214 		1 1.000 0.040 9 119676531 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
9 0.763 0.320 12 68154443 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs2302217
rs2302217
MADCAM1
1 1.000 0.040 19 498524 synonymous variant A/C;G snv 1.6E-05; 0.51 0.010 1.000 1 2009 2009
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs337629
rs337629
KLF3-AS1
1 1.000 0.040 4 38633737 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2014 2014
dbSNP: rs37972
rs37972
GLCCI1 ; UMAD1 ; GLCCI1-DT
5 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4415345
rs4415345
DEFA5
1 1.000 0.040 8 7057895 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6195
rs6195
NR3C1
6 0.807 0.120 5 143399752 missense variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1238539471
rs1238539471
NOD2
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
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 2006 2006
dbSNP: rs3092936
rs3092936
CD40LG
2 1.000 0.040 X 136654046 intron variant T/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs6198
rs6198
NR3C1
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2014 2014