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: rs397507442
rs397507442
PRSS1
2 0.925 0.040 7 142750579 missense variant A/G snv 0.020 1.000 2 2000 2006
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: 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: rs111033564
rs111033564
PRSS1
2 0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05 0.010 < 0.001 1 2004 2004
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: 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: rs139232307
rs139232307
PRSS2
1 1.000 0.040 7 142773300 missense variant G/A snv 1.4E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs145867820
rs145867820
PRSS1
1 1.000 0.040 7 142751775 missense variant C/T snv 0.010 1.000 1 2001 2001
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: 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: 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: 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: rs756271986
rs756271986
PRSS2
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 < 0.001 1 2004 2004
dbSNP: rs764176833
rs764176833
PRSS2
2 0.925 0.040 7 142773430 missense variant G/A snv 0.010 < 0.001 1 2004 2004
dbSNP: rs772223589
rs772223589
CFTR
3 0.925 0.120 7 117590391 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs149089920
rs149089920
LPL
3 0.925 0.120 8 19962134 missense variant G/A snv 6.0E-05 2.1E-04 0.010 1.000 1 1998 1998
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: 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: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0