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: rs1048230
rs1048230
SLC11A2
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2000 2000
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2001 2001
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: 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: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
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: rs1922242
rs1922242
ABCB1
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2004 2004
dbSNP: rs2235035
rs2235035
ABCB1
2 0.925 0.040 7 87549770 intron variant G/A snv 0.29 0.010 1.000 1 2004 2004
dbSNP: rs1292975971
rs1292975971
NOD2
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs369957746
rs369957746
NOD2
1 1.000 0.040 16 50711892 missense variant G/C snv 8.0E-05 1.4E-05 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs104895486
rs104895486
NOD2
2 0.925 0.040 16 50716670 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs1049793
rs1049793
AOC1 ; LOC105375567
4 0.882 0.080 7 150860577 missense variant C/G;T snv 0.37 0.37 0.010 1.000 1 2006 2006
dbSNP: rs1127233
rs1127233
MUC13
2 0.925 0.040 3 124908177 missense variant T/G snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs11825977
rs11825977
MUC2
2 0.925 0.040 11 1075920 splice region variant G/A snv 0.18 0.20 0.010 1.000 1 2006 2006
dbSNP: rs1199323686
rs1199323686
NOD2
2 0.925 0.040 16 50716670 frameshift variant C/- del 0.010 1.000 1 2006 2006
dbSNP: rs1277073914
rs1277073914
MUC12
2 0.925 0.040 7 100992117 missense variant T/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1452975937
rs1452975937
MUC4
2 0.925 0.040 3 195790889 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901
MUC4
3 0.882 0.080 3 195762138 missense variant C/A;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs548532642
rs548532642
TNF
3 0.882 0.080 6 31577184 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 < 0.001 1 2006 2006
dbSNP: rs747405414
rs747405414
MUC4
2 0.925 0.040 3 195762190 missense variant G/T snv 7.0E-06 0.010 1.000 1 2006 2006