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: rs5743277
rs5743277
NOD2
2 1.000 0.040 16 50712018 missense variant C/G;T snv 1.2E-05; 3.2E-03 0.710 1.000 7 2001 2016
dbSNP: rs104895420
rs104895420
NOD2
1 1.000 0.040 16 50699883 missense variant T/C snv 1.3E-04 5.6E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895422
rs104895422
NOD2
1 1.000 0.040 16 50710614 missense variant C/T snv 1.0E-04 1.3E-04 0.700 1.000 6 2001 2016
dbSNP: rs104895423
rs104895423
NOD2
1 1.000 0.040 16 50710654 missense variant T/G snv 5.6E-04 2.6E-04 0.700 1.000 6 2001 2016
dbSNP: rs104895424
rs104895424
NOD2
1 1.000 0.040 16 50710782 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895425
rs104895425
NOD2
1 1.000 0.040 16 50710792 missense variant C/G snv 1.9E-03 1.5E-03 0.700 1.000 6 2001 2016
dbSNP: rs104895426
rs104895426
NOD2
1 1.000 0.040 16 50710813 missense variant C/T snv 4.4E-05 4.2E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895427
rs104895427
NOD2
1 1.000 0.040 16 50710842 missense variant C/A;T snv 5.9E-04 0.700 1.000 6 2001 2016
dbSNP: rs145293873
rs145293873
NOD2
1 1.000 0.040 16 50711028 missense variant C/T snv 1.8E-04 2.1E-04 0.700 1.000 6 2001 2016
dbSNP: rs2076754
rs2076754
NOD2
1 1.000 0.040 16 50711206 missense variant C/T snv 1.6E-04 2.3E-04 0.700 1.000 6 2001 2016
dbSNP: rs5743276
rs5743276
NOD2
1 1.000 0.040 16 50711961 missense variant C/G;T snv 4.1E-04 0.700 1.000 6 2001 2016
dbSNP: rs5743278
rs5743278
NOD2
3 0.882 0.080 16 50712085 missense variant C/G snv 3.2E-03 1.3E-02 0.700 1.000 6 2001 2016
dbSNP: rs61747625
rs61747625
NOD2
1 1.000 0.040 16 50712175 missense variant C/T snv 2.5E-03 3.0E-03 0.700 1.000 6 2001 2016
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.040 0.750 4 2001 2015
dbSNP: rs200673075
rs200673075
CD74
2 0.925 0.040 5 150407152 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.790 1.000 10 2002 2014
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs1476273292
rs1476273292
APAF1
1 1.000 0.040 12 98712328 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2075820
rs2075820
NOD1
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.020 0.500 2 2003 2007
dbSNP: rs746482334
rs746482334
APAF1 ; ANKS1B
1 1.000 0.040 12 98732507 missense variant A/G snv 4.0E-06 0.010 < 0.001 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 0.800 0.895 19 2004 2017
dbSNP: rs771184127
rs771184127
NOD2
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.100 0.917 12 2004 2017
dbSNP: rs104895461
rs104895461
NOD2
4 0.882 0.120 16 50710912 missense variant G/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs1164509546
rs1164509546
ARHGEF7
1 1.000 0.040 13 111286234 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004