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: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.730 0.750 4 2002 2016
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.760 0.571 7 2005 2018
dbSNP: rs26307
rs26307
ANKH ; OTULIN
1 1.000 0.040 5 14705556 3 prime UTR variant T/C snv 0.72 0.020 1.000 2 2005 2013
dbSNP: rs27356
rs27356
ANKH
1 1.000 0.040 5 14722332 intron variant C/G;T snv 0.020 1.000 2 2005 2013
dbSNP: rs25957
rs25957
ANKH
1 1.000 0.040 5 14783123 intron variant C/G snv 0.77 0.010 1.000 1 2005 2005
dbSNP: rs28006
rs28006
ANKH
1 1.000 0.040 5 14781635 intron variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 0.500 4 2006 2018
dbSNP: rs1264457
rs1264457
HLA-E
4 0.851 0.160 6 30490287 missense variant G/A;T snv 0.54 0.020 1.000 2 2007 2009
dbSNP: rs11187265
rs11187265
CYP26C1
1 1.000 0.040 10 93064409 missense variant G/A snv 0.10 8.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1780329
rs1780329
ALPL
2 0.925 0.200 1 21576457 intron variant C/A snv 0.25 0.010 1.000 1 2007 2007
dbSNP: rs3738099
rs3738099
ALPL
1 1.000 0.040 1 21568242 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs3767155
rs3767155
ALPL
1 1.000 0.040 1 21558702 intron variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 14 2008 2018
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.900 0.957 23 2009 2020
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.100 1.000 16 2009 2019
dbSNP: rs27434
rs27434
ERAP1
1 1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05 0.890 1.000 10 2009 2018
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 0.667 3 2009 2018
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.030 1.000 3 2009 2018
dbSNP: rs767455
rs767455
TNFRSF1A
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.020 1.000 2 2009 2018
dbSNP: rs1004189
rs1004189
PIKFYVE
1 1.000 0.040 2 208349547 intron variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1024446168
rs1024446168
SYN1 ; TIMP1
1 1.000 0.040 X 47583421 synonymous variant C/A snv 1.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs11805303
rs11805303
IL23R ; C1orf141
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs12036228
rs12036228
FCRL5
1 1.000 0.040 1 157544301 missense variant C/T snv 0.19 0.23 0.010 1.000 1 2009 2009
dbSNP: rs142481975
rs142481975
MMP3
1 1.000 0.040 11 102843480 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009