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: 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: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.820 1.000 3 2009 2020
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: rs1384936174
rs1384936174
NOD2
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2008 2019
dbSNP: rs3749171
rs3749171
GPR35
9 0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 0.710 1.000 4 2015 2019
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.030 1.000 3 2012 2019
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs12956924
rs12956924
SMAD7
2 0.925 0.080 18 48924776 intron variant G/A snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs13381619
rs13381619
SMAD2
1 1.000 0.040 18 47890513 intron variant C/G snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs145039212
rs145039212
MPZ
1 1.000 0.040 1 161306839 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1792658
rs1792658
SMAD2
2 0.925 0.120 18 47856234 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1792671
rs1792671
SMAD2
1 1.000 0.040 18 47835823 3 prime UTR variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs200550971
rs200550971
CNR1
3 0.925 0.040 6 88144985 missense variant T/C snv 3.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs2294021
rs2294021
CCDC22
8 0.776 0.280 X 49249149 intron variant T/A;C snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs3129891
rs3129891 		5 0.851 0.160 6 32447303 downstream gene variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs34436714
rs34436714
NLRP12
7 0.851 0.120 19 53824059 missense variant C/A;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs376721140
rs376721140
SCGN
1 1.000 0.040 6 25661628 missense variant G/A;T snv 1.5E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7229678
rs7229678
SMAD4
1 1.000 0.040 18 51051412 3 prime UTR variant G/A;C snv 0.37 0.010 1.000 1 2019 2019
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: rs9304407
rs9304407
SMAD4
1 1.000 0.040 18 51069023 intron variant C/G snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs9955626
rs9955626
SMAD2
1 1.000 0.040 18 47888550 intron variant G/A snv 0.50 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