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 0.060 1.000 6 2002 2017
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.040 1.000 4 2002 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 2001 2017
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 2005 2014
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.030 1.000 3 2001 2017
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1054762079
rs1054762079
HNF1A ; HNF1A-AS1
1 1.000 0.040 12 120979040 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121909294
rs121909294
CTRC
3 0.925 0.040 1 15440524 stop gained G/A;T snv 2.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1319000691
rs1319000691
HNF1A ; HNF1A-AS1
1 1.000 0.040 12 120979073 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs150157202
rs150157202
CFTR
2 0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs202003805
rs202003805
PRSS1
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs397508687
rs397508687
CFTR
5 0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs61734659
rs61734659
PRSS2
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2001 2001