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: rs1250569
rs1250569
ZMIZ1
3 0.925 0.040 10 79285450 intron variant T/C snv 0.44 0.51 0.010 1.000 1 2017 2017
dbSNP: rs12521868
rs12521868
IRF1-AS1
3 1.000 0.040 5 132448701 intron variant G/T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1256517634
rs1256517634
NOD2
1 16 50711025 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12720460
rs12720460
NOS2
1 17 27801261 intron variant ATTT/-;ATTTATTT;ATTTATTTATTT delins 0.010 1.000 1 2017 2017
dbSNP: rs1280165854
rs1280165854
CRLF1
1 19 18596702 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1292975971
rs1292975971
NOD2
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs12948909
rs12948909
CAVIN1
3 0.925 0.120 17 42418584 intron variant A/C snv 0.24 0.010 1.000 1 2010 2010
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: rs13361189
rs13361189 		13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1343126
rs1343126
MAGI3
1 1 113586470 intron variant A/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1367967034
rs1367967034
NOD2
2 1.000 0.040 16 50707959 splice region variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1369602268
rs1369602268
NOD2
2 1.000 0.040 16 50707883 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1405655
rs1405655
NR1H2
3 0.925 0.120 19 50379362 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs142430606
rs142430606
IL17REL
3 0.925 0.040 22 49998059 missense variant G/A;T snv 1.1E-02; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs1426809883
rs1426809883
ICAM1
1 19 10284797 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1474156473
rs1474156473
ATG16L1
3 0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs149382949
rs149382949
ANKZF1
2 1.000 0.040 2 219232579 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1648234
rs1648234
CSRP3-AS1
1 11 19308167 intron variant G/A snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2018 2018
dbSNP: rs17095830
rs17095830
ANO6
2 1.000 0.040 12 45381125 intron variant A/G snv 7.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs17221417
rs17221417
NOD2
3 0.925 0.040 16 50705671 intron variant C/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs17250932
rs17250932
TBX21
5 0.851 0.160 17 47731941 upstream gene variant T/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1799852
rs1799852
TF
5 3 133756878 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2016 2016
dbSNP: rs1800460
rs1800460
TPMT
7 0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 0.010 1.000 1 2012 2012