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: 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
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: rs145922845
rs145922845
IL10 ; IL19
1 1.000 0.040 1 206772393 missense variant C/T snv 1.9E-03 1.8E-03 0.030 0.667 3 2000 2005
dbSNP: rs10117785
rs10117785
TNFSF15
1 1.000 0.040 9 114789323 3 prime UTR variant T/A snv 0.34 0.700 1.000 1 2005 2005
dbSNP: rs1322054
rs1322054
TNFSF8 ; DELEC1
1 1.000 0.040 9 114907019 intron variant A/G snv 0.58 0.700 1.000 1 2005 2005
dbSNP: rs16931910
rs16931910
DELEC1
1 1.000 0.040 9 114856029 intron variant A/C snv 7.2E-02 0.700 1.000 1 2005 2005
dbSNP: rs1885383
rs1885383
TNFSF8 ; DELEC1
1 1.000 0.040 9 114917522 intron variant G/A snv 0.21 0.700 1.000 1 2005 2005
dbSNP: rs2295800
rs2295800
TNFSF8 ; DELEC1
1 1.000 0.040 9 114901931 intron variant T/C snv 0.56 0.700 1.000 1 2005 2005
dbSNP: rs2974
rs2974
TNFSF8 ; DELEC1
1 1.000 0.040 9 114901892 intron variant T/C snv 0.56 0.700 1.000 1 2005 2005
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs3789879
rs3789879
TNFSF8 ; DELEC1
1 1.000 0.040 9 114915956 intron variant T/C snv 0.58 0.700 1.000 1 2005 2005
dbSNP: rs3789882
rs3789882
TNFSF8 ; DELEC1
1 1.000 0.040 9 114907419 intron variant A/T snv 0.22 0.700 1.000 1 2005 2005
dbSNP: rs3792876
rs3792876
SLC22A4
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.010 1.000 1 2005 2005
dbSNP: rs4372078
rs4372078
TNFSF15
1 1.000 0.040 9 114801407 intron variant T/G snv 0.78 0.700 1.000 1 2005 2005
dbSNP: rs4574921
rs4574921 		3 0.882 0.160 9 114776054 upstream gene variant C/T snv 0.80 0.700 1.000 1 2005 2005
dbSNP: rs191901394
rs191901394
NOD2
2 0.925 0.040 16 50710831 missense variant C/T snv 1.0E-04 7.0E-05 0.020 1.000 2 2006 2006
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.020 1.000 2 2006 2006
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2006 2006
dbSNP: rs104895482
rs104895482
NOD2
1 1.000 0.040 16 50711298 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs104895483
rs104895483
NOD2
1 1.000 0.040 16 50712049 missense variant G/A snv 4.7E-04 5.4E-04 0.710 1.000 1 2006 2006
dbSNP: rs104895484
rs104895484
NOD2
1 1.000 0.040 16 50712282 missense variant C/T snv 5.2E-05 8.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs104895485
rs104895485
NOD2
1 1.000 0.040 16 50716599 missense variant C/G snv 4.0E-06 0.010 1.000 1 2006 2006
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