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: 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: 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: 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: 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: rs1805017
rs1805017
PLA2G7
5 0.851 0.240 6 46716485 missense variant C/A;T snv 4.0E-06; 0.31 0.010 1.000 1 2017 2017
dbSNP: rs497078
rs497078
CTRC
2 0.925 0.040 1 15440540 synonymous variant C/A;T snv 3.7E-03; 9.1E-02 0.010 1.000 1 2017 2017
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: 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: rs752688735
rs752688735
PRSS1
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs756271986
rs756271986
PRSS2
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 1.000 1 2011 2011
dbSNP: rs764176833
rs764176833
PRSS2
2 0.925 0.040 7 142773430 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.010 1.000 1 2014 2014
dbSNP: rs778574118
rs778574118
CASP7
1 1.000 0.040 10 113721138 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2015 2015
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