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: rs148954387
rs148954387
SPINK1
3 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 0
dbSNP: rs1553134935
rs1553134935
CTRC
1 1.000 0.040 1 15445655 frameshift variant CATCG/- delins 0.700 0
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 1999 1999
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: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 2001 2001
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: rs387906698
rs387906698
PRSS1
8 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1303
rs1303
SERPINA1
4 0.925 0.040 14 94378506 missense variant T/G snv 0.28 0.22 0.010 1.000 1 2002 2002
dbSNP: rs111966833
rs111966833
SPINK1
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.010 1.000 1 2005 2005
dbSNP: rs113857788
rs113857788
CFTR
5 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2003 2006
dbSNP: rs752688735
rs752688735
PRSS1
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs773552397
rs773552397
CASR
1 1.000 0.040 3 122284641 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2007 2007
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs587777636
rs587777636
GPIHBP1
4 0.882 0.080 8 143213935 missense variant G/A;C snv 6.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs61734659
rs61734659
PRSS2
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.020 1.000 2 2006 2009
dbSNP: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.020 1.000 2 2006 2009
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2010
dbSNP: rs1413293653
rs1413293653
CRISPLD2
1 1.000 0.040 16 84866923 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs142022985
rs142022985
PRSS3 ; UBE2R2-AS1
1 1.000 0.040 9 33798530 missense variant A/G snv 1.2E-03 1.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs775626498
rs775626498
CRISPLD2
1 1.000 0.040 16 84850577 missense variant G/A snv 0.010 < 0.001 1 2010 2010
dbSNP: rs747940576
rs747940576
CTSB
4 0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.100 1.000 10 2001 2012