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: 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: rs10035653
rs10035653
EXOC3 ; EXOC3-AS1
1 1.000 0.040 5 442675 non coding transcript exon variant G/A;T snv 9.1E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs104895467
rs104895467
NOD2
5 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs140797839
rs140797839
NCR1 ; NLRP7
1 1.000 0.040 19 54933725 missense variant C/T snv 4.8E-05 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs143169084
rs143169084
NLRP7
1 1.000 0.040 19 54939737 missense variant G/A snv 2.0E-03 1.2E-03 0.010 1.000 1 2018 2018
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: rs17154444
rs17154444
SLC26A3
1 1.000 0.040 7 107795423 intron variant T/C snv 4.8E-02 0.010 1.000 1 2018 2018