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 0.020 1.000 2 2018 2020
dbSNP: rs12688220
rs12688220
MORC4
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.020 1.000 2 2018 2020
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.020 0.500 2 2013 2015
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2013 2013
dbSNP: rs4251961
rs4251961
IL1RN
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs778574118
rs778574118
CASP7
1 1.000 0.040 10 113721138 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2007 2014
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs142907823
rs142907823
TNFRSF1B
1 1.000 0.040 1 12188800 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs5029924
rs5029924
TNFAIP3 ; WAKMAR2
4 0.851 0.200 6 137866361 intron variant C/T snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.030 1.000 3 2017 2020
dbSNP: rs111033566
rs111033566
PRSS1
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.030 1.000 3 2006 2012
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.030 1.000 3 2006 2012
dbSNP: rs752688735
rs752688735
PRSS1
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs756271986
rs756271986
PRSS2
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 1.000 1 2011 2011
dbSNP: rs764176833
rs764176833
PRSS2
2 0.925 0.040 7 142773430 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs61734659
rs61734659
PRSS2
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.020 1.000 2 2009 2011
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.080 0.875 8 2005 2015
dbSNP: rs497078
rs497078
CTRC
2 0.925 0.040 1 15440540 synonymous variant C/A;T snv 3.7E-03; 9.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1132312
rs1132312
CASP9
1 1.000 0.040 1 15518120 missense variant A/C;G;T snv 0.53 0.010 1.000 1 2017 2017