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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2001
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 1999 2001
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: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2002 2002
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2002 2002
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2002 2002
dbSNP: rs9282564
rs9282564
ABCB1
2 1.000 0.080 7 87600124 missense variant T/A;C;G snv 7.3E-02 7.3E-02 0.010 1.000 1 2003 2003
dbSNP: rs57749775
rs57749775
KRT8
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2006
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 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: rs1256517634
rs1256517634
NOD2
1 16 50711025 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1280165854
rs1280165854
CRLF1
1 19 18596702 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs13306190
rs13306190
APOB
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1426809883
rs1426809883
ICAM1
1 19 10284797 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs34694289
rs34694289
FCER2
1 19 7689215 missense variant G/A;C snv 2.4E-03; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs5743342
rs5743342
NOD1
1 7 30452303 missense variant C/T snv 3.5E-03 1.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs755554858
rs755554858
NOD2
1 16 50711106 missense variant G/A snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs780005934
rs780005934
NOD2
1 16 50710710 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs867671924
rs867671924
ITGB3
3 1.000 0.080 17 47292176 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 0.500 2 2006 2007
dbSNP: rs2075820
rs2075820
NOD1
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.020 1.000 2 2006 2007
dbSNP: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2007 2007