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: 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: rs12008279
rs12008279
CLDN2 ; MORC4
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12014762
rs12014762
MORC4
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs13228878
rs13228878
PRSS2
1 1.000 0.040 7 142765617 intron variant G/A snv 0.51 0.010 < 0.001 1 2019 2019
dbSNP: rs42490
rs42490
RIPK2
5 0.882 0.160 8 89766285 intron variant G/A snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs4409525
rs4409525
MORC4
2 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs5917027
rs5917027
CLDN2 ; MORC4
1 1.000 0.040 X 106919404 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62228256
rs62228256
LINC01429
1 1.000 0.040 20 51837908 intron variant C/T snv 2.7E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs379742
rs379742 		1 1.000 0.040 X 106250703 intergenic variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs4437130
rs4437130 		2 1.000 0.040 3 2035283 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs62561366
rs62561366 		2 1.000 0.040 9 95555669 intergenic variant A/T snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs2995271
rs2995271
LOC101929279
2 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.800 1.000 1 2012 2012
dbSNP: rs199695765
rs199695765
CPA2
2 0.925 0.160 7 130269008 stop gained C/T snv 8.8E-05 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.010 1.000 1 2011 2011
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: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 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: 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