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: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.100 1.000 13 2002 2015
dbSNP: rs201565523
rs201565523
SLC11A1
3 0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs2227251
rs2227251
CTDSP1 ; MIR26B
1 1.000 0.040 2 218401700 synonymous variant C/A;T snv 0.25 0.010 < 0.001 1 2002 2002
dbSNP: rs2227255
rs2227255
CTDSP1 ; MIR26B
1 1.000 0.040 2 218403058 synonymous variant C/T snv 0.57 0.46 0.010 < 0.001 1 2002 2002
dbSNP: rs1800451
rs1800451
MBL2
9 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.050 1.000 5 2003 2018
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.100 1.000 11 2004 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.060 0.833 6 2004 2016
dbSNP: rs1344800847
rs1344800847
CR1
2 0.925 0.120 1 207569911 missense variant G/T snv 0.010 1.000 1 2004 2004
dbSNP: rs3738467
rs3738467
CR1
2 0.925 0.120 1 207552816 missense variant G/T snv 1.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs748009686
rs748009686
IFNA10
2 0.925 0.080 9 21206547 missense variant C/A;G snv 2.0E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs9298814
rs9298814
IFNA17
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2004 2004
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2013
dbSNP: rs35947132
rs35947132
PRF1
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2007 2008
dbSNP: rs11575934
rs11575934
IL12RB1
4 0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25 0.010 1.000 1 2007 2007
dbSNP: rs11575935
rs11575935
IL12RB1
2 0.925 0.040 19 18063921 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2007 2007
dbSNP: rs2076530
rs2076530
BTNL2 ; TSBP1-AS1
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs375947
rs375947
IL12RB1
2 1.000 0.040 19 18069641 missense variant A/G snv 0.29 0.29 0.010 1.000 1 2007 2007
dbSNP: rs401502
rs401502
IL12RB1
2 0.925 0.040 19 18069603 missense variant C/A;G;T snv 0.28; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs772717932
rs772717932
IL1B
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs4804803
rs4804803
CD209
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.040 1.000 4 2008 2014
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.040 0.750 4 2008 2016
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2008 2013
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.020 1.000 2 2008 2018
dbSNP: rs5743278
rs5743278
NOD2
3 0.882 0.080 16 50712085 missense variant C/G snv 3.2E-03 1.3E-02 0.010 1.000 1 2008 2008