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: rs104895462
rs104895462
NOD2
3 0.882 0.120 16 50710911 missense variant C/T snv 0.880 1.000 14 2001 2015
dbSNP: rs104895461
rs104895461
NOD2
4 0.882 0.120 16 50710912 missense variant G/A;C snv 0.840 1.000 4 2004 2016
dbSNP: rs104895477
rs104895477
NOD2
3 0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05 0.820 1.000 8 2005 2016
dbSNP: rs104895476
rs104895476
NOD2
2 0.925 0.160 16 50711057 missense variant C/G;T snv 4.8E-05 0.820 1.000 2 2013 2017
dbSNP: rs104895460
rs104895460
NOD2
2 0.925 0.080 16 50711316 missense variant C/T snv 0.810 1.000 1 2009 2009
dbSNP: rs104895472
rs104895472
NOD2
1 1.000 0.080 16 50711398 missense variant A/T snv 0.800 0
dbSNP: rs104895473
rs104895473
NOD2
2 0.925 0.120 16 50711449 missense variant T/C snv 0.800 0
dbSNP: rs104895493
rs104895493
NOD2
1 1.000 0.080 16 50711059 missense variant A/G snv 0.720 1.000 2 2009 2015
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.710 1.000 9 2003 2011
dbSNP: rs2066847
rs2066847
NOD2
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 1.000 17 2001 2015
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.700 1.000 12 2001 2013
dbSNP: rs104895467
rs104895467
NOD2
5 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.700 1.000 1 2011 2011
dbSNP: rs104895438
rs104895438
NOD2
2 0.925 0.120 16 50711745 missense variant G/A;T snv 6.4E-04; 5.6E-05 0.700 0
dbSNP: rs104895474
rs104895474
NOD2
1 1.000 0.080 16 50711724 missense variant A/C snv 0.700 0
dbSNP: rs104895475
rs104895475
NOD2
1 1.000 0.080 16 50711921 missense variant C/A;G;T snv 2.4E-05 0.700 0
dbSNP: rs104895478
rs104895478
NOD2
1 1.000 0.080 16 50711395 missense variant G/A snv 0.700 0
dbSNP: rs104895479
rs104895479
NOD2
1 1.000 0.080 16 50711670 missense variant C/T snv 0.700 0
dbSNP: rs104895480
rs104895480
NOD2
1 1.000 0.080 16 50711380 missense variant G/T snv 0.700 0
dbSNP: rs104895494
rs104895494
NOD2
1 1.000 0.080 16 50711353 missense variant G/A snv 0.700 0
dbSNP: rs200120741
rs200120741
AHSA1
1 1.000 0.080 14 77469173 missense variant G/A snv 2.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs746911440
rs746911440
NOD2
1 1.000 0.080 16 50723305 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs756199484
rs756199484
RIPK2
1 1.000 0.080 8 89784054 missense variant A/G snv 1.3E-05 0.010 1.000 1 2015 2015