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: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 0.667 3 2013 2017
dbSNP: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.020 1.000 2 2018 2020
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2013 2013
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs4251961
rs4251961
IL1RN
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs5029924
rs5029924
TNFAIP3 ; WAKMAR2
4 0.851 0.200 6 137866361 intron variant C/T snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs5707
rs5707
REN
2 1.000 0.040 1 204160543 intron variant A/C;G;T snv 0.25; 2.0E-05; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs5743795
rs5743795
TLR1 ; TLR6
1 1.000 0.040 4 38830874 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.080 0.875 8 2005 2015
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.030 1.000 3 2006 2012
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.030 1.000 3 2006 2012
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2007 2014
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs61734659
rs61734659
PRSS2
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.020 1.000 2 2009 2011
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2008
dbSNP: rs1052571
rs1052571
CASP9
4 0.882 0.080 1 15524118 missense variant G/A snv 0.50 0.59 0.010 1.000 1 2017 2017
dbSNP: rs111033566
rs111033566
PRSS1
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1132312
rs1132312
CASP9
1 1.000 0.040 1 15518120 missense variant A/C;G;T snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs139635080
rs139635080
PRSS3 ; UBE2R2-AS1
1 1.000 0.040 9 33798602 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs142907823
rs142907823
TNFRSF1B
1 1.000 0.040 1 12188800 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1451659304
rs1451659304
LMF1
2 1.000 0.040 16 868990 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs145657341
rs145657341
LPL
3 0.925 0.120 8 19951811 missense variant G/A snv 1.7E-04 7.0E-05 0.010 1.000 1 2014 2014