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: rs111033566
rs111033566
PRSS1
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.900 1.000 31 1996 2015
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.900 1.000 26 1996 2012
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.870 1.000 22 2000 2018
dbSNP: rs202003805
rs202003805
PRSS1
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.840 1.000 21 1996 2012
dbSNP: rs111033568
rs111033568
PRSS1
3 0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05 0.820 1.000 25 1996 2018
dbSNP: rs111033567
rs111033567
PRSS1
3 0.882 0.040 7 142750582 missense variant A/G snv 0.820 1.000 15 1996 2015
dbSNP: rs387906698
rs387906698
PRSS1
8 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.820 1.000 13 1996 2009
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.800 1.000 21 1996 2012
dbSNP: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.800 1.000 14 1998 2002
dbSNP: rs121909293
rs121909293
CTRC
5 0.851 0.080 1 15445717 missense variant C/T snv 4.4E-03 3.8E-03 0.800 1.000 7 2008 2015
dbSNP: rs104893939
rs104893939
SPINK1
2 0.925 0.040 5 147831537 missense variant A/C;G snv 0.800 1.000 5 2000 2010
dbSNP: rs397507442
rs397507442
PRSS1
2 0.925 0.040 7 142750579 missense variant A/G snv 0.720 1.000 2 2001 2002
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.720 1.000 2 2000 2000
dbSNP: rs111033564
rs111033564
PRSS1
2 0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05 0.710 1.000 12 1996 2017
dbSNP: rs144422014
rs144422014
PRSS1
1 1.000 0.040 7 142750675 missense variant A/G snv 0.700 1.000 11 1996 2005
dbSNP: rs1554499091
rs1554499091
PRSS1
2 0.925 0.040 7 142751884 missense variant T/C snv 0.700 1.000 11 1996 2005
dbSNP: rs148954387
rs148954387
SPINK1
3 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 1.000 7 2000 2015
dbSNP: rs189270875
rs189270875
PRSS1
1 1.000 0.040 7 142752899 missense variant G/C snv 7.2E-04 2.4E-04 0.700 1.000 6 2006 2015
dbSNP: rs515726210
rs515726210
CTRC
1 1.000 0.040 1 15445688 inframe deletion CAAGAAGCCGGTAGTCTACACCCG/- delins 0.700 1.000 5 2008 2013
dbSNP: rs142560329
rs142560329
CTRC
2 0.925 0.040 1 15445703 missense variant C/T snv 9.9E-05 2.2E-04 0.700 1.000 4 2008 2013
dbSNP: rs200678111
rs200678111
CTRC
1 1.000 0.040 1 15444645 missense variant A/G snv 7.8E-04 9.1E-05 0.700 1.000 4 2008 2013
dbSNP: rs202058123
rs202058123
CTRC
1 1.000 0.040 1 15445606 missense variant G/A;C snv 6.0E-05 0.700 1.000 4 2008 2013
dbSNP: rs193922659
rs193922659
SPINK1
1 1.000 0.040 5 147831551 frameshift variant G/- del 1.2E-05 2.1E-05 0.700 1.000 2 2004 2012
dbSNP: rs121909294
rs121909294
CTRC
3 0.925 0.040 1 15440524 stop gained G/A;T snv 2.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs1557508272
rs1557508272
CTRC
1 1.000 0.040 1 15440492 splice acceptor variant G/T snv 0.700 1.000 1 2013 2013