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: rs10737416
rs10737416
LOC105373109
1 1.000 0.040 1 224887055 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1238539471
rs1238539471
NOD2
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
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 2010 2010
dbSNP: rs17114808
rs17114808
SUFU
2 0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17582214
rs17582214 		1 1.000 0.040 9 119676531 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2278293
rs2278293
IMPDH1
3 0.882 0.040 7 128400698 non coding transcript exon variant C/T snv 0.47 0.010 < 0.001 1 2018 2018
dbSNP: rs2302217
rs2302217
MADCAM1
1 1.000 0.040 19 498524 synonymous variant A/C;G snv 1.6E-05; 0.51 0.010 1.000 1 2009 2009
dbSNP: rs2310241
rs2310241
IL1RL2
1 1.000 0.040 2 102225489 intron variant A/C snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs3004070
rs3004070
MOCS1 ; DAAM2
1 1.000 0.040 6 39902176 3 prime UTR variant T/A snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs3092936
rs3092936
CD40LG
2 1.000 0.040 X 136654046 intron variant T/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs337629
rs337629
KLF3-AS1
1 1.000 0.040 4 38633737 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4415345
rs4415345
DEFA5
1 1.000 0.040 8 7057895 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs4610776
rs4610776
DEFA5
1 1.000 0.040 8 7057155 upstream gene variant A/T snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs4833079
rs4833079
KLF3-AS1
2 1.000 0.040 4 38653060 intron variant T/C snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs4837656
rs4837656 		1 1.000 0.040 9 119671775 intergenic variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs6531656
rs6531656
KLF3
2 1.000 0.040 4 38682580 intron variant C/T snv 0.87 0.010 1.000 1 2012 2012
dbSNP: rs7588571
rs7588571
REG3A
3 0.882 0.040 2 79161461 intron variant G/A snv 0.49 0.010 < 0.001 1 2017 2017
dbSNP: rs2278294
rs2278294
IMPDH1
3 0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs4364254
rs4364254
HPSE
3 0.882 0.080 4 83302560 intron variant C/T snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs7251
rs7251
IRF3
2 0.925 0.080 19 49659652 missense variant C/A;G snv 0.39 0.44 0.010 1.000 1 2013 2013
dbSNP: rs6195
rs6195
NR3C1
6 0.807 0.120 5 143399752 missense variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3092920
rs3092920 		2 0.925 0.160 X 136661832 downstream gene variant G/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs3092952
rs3092952 		3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs37972
rs37972
GLCCI1 ; UMAD1 ; GLCCI1-DT
5 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4845618
rs4845618
IL6R
5 0.851 0.160 1 154427539 intron variant G/T snv 0.53 0.010 1.000 1 2018 2018