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: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 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 0.100 0.889 18 2001 2020
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: 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: rs886037774
rs886037774
LPL
7 0.882 0.120 8 19955993 missense variant T/C snv 0.700 0
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
3 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.700 0
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: rs397508139
rs397508139
CFTR
3 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs1451011538
rs1451011538
CRISPLD2
2 0.925 0.080 16 84838647 missense variant T/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.100 0.800 10 2000 2020
dbSNP: rs756271986
rs756271986
PRSS2
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 < 0.001 1 2004 2004
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 < 0.001 1 2007 2007
dbSNP: rs3809849
rs3809849
MYBBP1A
3 0.882 0.120 17 4555303 missense variant G/C;T snv 0.21; 3.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 < 0.001 1 2007 2007
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: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.010 < 0.001 1 2014 2014
dbSNP: rs199422123
rs199422123
PRSS1
2 0.925 0.040 7 142751934 missense variant G/A;T snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs34708521
rs34708521
SPEF2
1 1.000 0.040 5 35670201 missense variant G/A;T snv 0.10; 4.0E-06 0.010 1.000 1 2017 2017
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: 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: rs771803303
rs771803303
TGM2
3 0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2001 2001
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: rs145844329
rs145844329
GPIHBP1
3 0.882 0.120 8 143215486 missense variant G/A;C snv 2.5E-05; 8.5E-04 0.010 1.000 1 2020 2020