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: 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: rs104895462
rs104895462
NOD2
3 0.882 0.120 16 50710911 missense variant C/T snv 0.700 1.000 8 2001 2015
dbSNP: rs104895477
rs104895477
NOD2
3 0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05 0.700 1.000 8 2005 2016
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.700 1.000 8 2003 2011
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: rs139868987
rs139868987
HSPA1L
1 1.000 0.040 6 31811173 missense variant G/A snv 8.4E-05 1.8E-04 0.700 1.000 1 2017 2017
dbSNP: rs2227955
rs2227955
HSPA1L
1 1.000 0.040 6 31810300 missense variant T/G snv 3.2E-02 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs34620296
rs34620296
HSPA1L
1 1.000 0.040 6 31811171 missense variant C/T snv 4.9E-03 1.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs368138379
rs368138379
HSPA1L
1 1.000 0.040 6 31811744 missense variant C/T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs750447828
rs750447828
HSPA1L
1 1.000 0.040 6 31811456 inframe deletion TTA/- del 7.6E-05 1.1E-04 0.700 1.000 1 2017 2017
dbSNP: rs104895461
rs104895461
NOD2
4 0.882 0.120 16 50710912 missense variant G/A;C snv 0.700 0
dbSNP: rs104895473
rs104895473
NOD2
2 0.925 0.120 16 50711449 missense variant T/C snv 0.700 0
dbSNP: rs1264862631
rs1264862631
NOD2
1 1.000 0.040 16 50711631 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs2236379
rs2236379
PRKCQ
7 0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30 0.700 0