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: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.100 0.889 18 2001 2020
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.100 0.800 10 2000 2020
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.060 1.000 6 2001 2011
dbSNP: rs111033567
rs111033567
PRSS1
3 0.882 0.040 7 142750582 missense variant A/G snv 0.040 1.000 4 2000 2020
dbSNP: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.040 1.000 4 1997 1999
dbSNP: rs202003805
rs202003805
PRSS1
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.040 1.000 4 2000 2010
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2002 2020
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.820 0.667 3 2012 2020
dbSNP: rs111033566
rs111033566
PRSS1
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.030 1.000 3 1999 2011
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2006 2006
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.020 1.000 2 1996 2020
dbSNP: rs12688220
rs12688220
MORC4
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.810 1.000 2 2012 2020
dbSNP: rs2647087
rs2647087 		2 1.000 0.040 6 32713272 upstream gene variant A/C snv 0.29 0.020 1.000 2 2014 2018
dbSNP: rs387906698
rs387906698
PRSS1
8 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.020 1.000 2 2001 2005
dbSNP: rs397507442
rs397507442
PRSS1
2 0.925 0.040 7 142750579 missense variant A/G snv 0.020 1.000 2 2000 2006
dbSNP: rs515726208
rs515726208
SPINK1
1 1.000 0.040 5 147824702 missense variant G/A snv 3.2E-05 1.4E-05 0.020 1.000 2 2001 2003
dbSNP: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.710 1.000 2 2012 2020
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.020 1.000 2 2000 2008
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 < 0.001 1 2009 2009
dbSNP: rs111033564
rs111033564
PRSS1
2 0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs111033568
rs111033568
PRSS1
3 0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2011 2011