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: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.030 1.000 3 2017 2020
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: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.030 1.000 3 2006 2012
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: rs12688220
rs12688220
MORC4
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.020 1.000 2 2018 2020
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.020 1.000 2 2013 2019
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: 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: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.020 1.000 2 2009 2011
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: 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: rs1451659304
rs1451659304
LMF1
2 1.000 0.040 16 868990 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs146966861
rs146966861
PRSS3 ; UBE2R2-AS1
1 1.000 0.040 9 33797993 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1490931437
rs1490931437
TP53
2 0.925 0.120 17 7673260 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2013 2013
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: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 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: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
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: rs752688735
rs752688735
PRSS1
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2011 2011