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: rs61734659
rs61734659
PRSS2
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2011 2011
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: 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: 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: 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: 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: rs397508687
rs397508687
CFTR
5 0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06 0.020 1.000 2 2000 2008
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: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs118204082
rs118204082
LPL
4 0.851 0.120 8 19955863 missense variant C/G;T snv 1.5E-04 0.010 1.000 1 2000 2000
dbSNP: rs121909293
rs121909293
CTRC
5 0.851 0.080 1 15445717 missense variant C/T snv 4.4E-03 3.8E-03 0.010 1.000 1 2011 2011
dbSNP: rs140808909
rs140808909
APOE
5 0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs57749775
rs57749775
KRT8
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs6622126
rs6622126
MORC4
4 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs111033567
rs111033567
PRSS1
3 0.882 0.040 7 142750582 missense variant A/G snv 0.040 1.000 4 2000 2020
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: 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: 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: 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
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: 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: 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: 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: rs775437927
rs775437927
CRISPLD2
3 0.882 0.080 16 84849390 missense variant G/A snv 6.0E-05 7.0E-06 0.010 1.000 1 2008 2008