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: 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: rs13324142
rs13324142
SLC26A6
2 0.925 0.120 3 48632014 missense variant C/G;T snv 4.0E-06; 9.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs139729994
rs139729994
CFTR
2 0.925 0.120 7 117614713 missense variant G/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2015 2015
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: rs1554499091
rs1554499091
PRSS1
2 0.925 0.040 7 142751884 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
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: 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: 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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs2995271
rs2995271
LOC101929279
2 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs371282890
rs371282890
LPL
6 0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05 0.010 1.000 1 2016 2016
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: rs4409525
rs4409525
MORC4
2 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs4751995
rs4751995
PNLIPRP2
1 1.000 0.040 10 116638373 splice acceptor variant A/G;T snv 0.49 0.55 0.010 1.000 1 2018 2018
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: rs6622126
rs6622126
MORC4
4 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 < 0.001 1 2012 2012
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: rs752688735
rs752688735
PRSS1
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs761886494
rs761886494
LPL
3 0.925 0.040 8 19955870 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs762727745
rs762727745
CTSB
1 1.000 0.040 8 11847803 synonymous variant G/A snv 1.7E-05 0.010 1.000 1 2013 2013