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: 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: 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: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs886037774
rs886037774
LPL
7 0.882 0.120 8 19955993 missense variant T/C snv 0.700 0
dbSNP: rs886037775
rs886037775
LPL
7 0.882 0.120 8 19960948 missense variant A/T snv 0.700 0
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: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.040 1.000 4 1997 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: 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: 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: rs145867820
rs145867820
PRSS1
1 1.000 0.040 7 142751775 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs72558408
rs72558408
OTC
2 0.925 0.160 X 38403681 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs771803303
rs771803303
TGM2
3 0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2001 2001
dbSNP: rs515726208
rs515726208
SPINK1
1 1.000 0.040 5 147824702 missense variant G/A snv 3.2E-05 1.4E-05 0.020 1.000 2 2001 2003
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: 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: 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: rs387906698
rs387906698
PRSS1
8 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.020 1.000 2 2001 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 2006 2006
dbSNP: rs397507442
rs397507442
PRSS1
2 0.925 0.040 7 142750579 missense variant A/G snv 0.020 1.000 2 2000 2006
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2006 2006
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 2006 2006
dbSNP: rs57749775
rs57749775
KRT8
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 < 0.001 1 2007 2007