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: 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: rs212388
rs212388
LOC105378083 ; LOC112267968
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.810 1.000 6 2010 2017
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: rs6651252
rs6651252
LINC00824
8 0.790 0.200 8 128554935 intron variant T/C snv 0.19 0.810 1.000 6 2010 2019
dbSNP: rs7848647
rs7848647
TNFSF15
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.840 1.000 6 2005 2018
dbSNP: rs901312933
rs901312933
ATG16L1
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.060 1.000 6 2007 2016
dbSNP: rs1000113
rs1000113
IRGM
2 0.925 0.040 5 150860514 intron variant C/T snv 0.13 0.840 1.000 5 2007 2015
dbSNP: rs10883365
rs10883365
LINC01475
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.830 1.000 5 2007 2014
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.800 1.000 5 2006 2010
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 1.000 5 2008 2014
dbSNP: rs2024092
rs2024092
SBNO2
6 0.827 0.120 19 1124032 intron variant G/A snv 0.24 0.26 0.800 1.000 5 2008 2017
dbSNP: rs3764147
rs3764147
LACC1
7 0.807 0.280 13 43883789 missense variant A/G snv 0.28 0.27 0.810 1.000 5 2008 2017
dbSNP: rs4409764
rs4409764 		3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.820 1.000 5 2010 2019
dbSNP: rs7869487
rs7869487 		3 0.882 0.040 9 114818634 intergenic variant C/G;T snv 0.830 1.000 5 2005 2015
dbSNP: rs10761659
rs10761659 		3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.810 1.000 4 2010 2017
dbSNP: rs116855232
rs116855232
NUDT15
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.730 1.000 4 2014 2018
dbSNP: rs11742570
rs11742570 		3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 4 2010 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 1999 2016
dbSNP: rs1250550
rs1250550
ZMIZ1
5 0.851 0.240 10 79300560 intron variant C/A snv 0.27 0.820 1.000 4 2010 2017
dbSNP: rs1292975971
rs1292975971
NOD2
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.040 1.000 4 2005 2008