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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2010
dbSNP: rs200349593
rs200349593
NXPE1 ; NXPE2
1 1.000 0.040 11 114526440 intron variant -/C;CCACTCTCTTCCTC ins 0.700 1.000 1 2017 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2007 2010
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs71559680
rs71559680 		6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1199323686
rs1199323686
NOD2
2 0.925 0.040 16 50716670 frameshift variant C/- del 0.010 1.000 1 2006 2006
dbSNP: rs1333407770
rs1333407770
DLG5
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.020 0.500 2 2007 2016
dbSNP: rs2066847
rs2066847
NOD2
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.020 0.500 2 2010 2015
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2011 2014
dbSNP: rs75900472
rs75900472 		3 0.925 0.040 9 4981601 upstream gene variant CC/A;C delins 4.6E-02 0.700 1.000 2 2015 2017
dbSNP: rs11306716
rs11306716 		5 0.827 0.120 2 203843041 intergenic variant T/-;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs34670647
rs34670647 		5 0.827 0.120 16 30159695 regulatory region variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs5743293
rs5743293
NOD2
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.850 20 2003 2018
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 15 2007 2020
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.800 0.846 13 2002 2018
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 0.923 13 2004 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.100 0.833 12 2007 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.100 0.900 10 2002 2015
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.850 1.000 9 2009 2018
dbSNP: rs3024505
rs3024505 		10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.840 0.889 9 2008 2017
dbSNP: rs6426833
rs6426833 		6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.810 1.000 9 2009 2017
dbSNP: rs17085007
rs17085007 		7 0.827 0.120 13 26957130 regulatory region variant T/C snv 0.16 0.820 1.000 8 2009 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2005 2018