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: 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: 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: 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: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.020 0.500 2 2013 2015
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: 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: 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
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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2017 2017
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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
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: 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