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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2012
dbSNP: rs121909293
rs121909293
CTRC
5 0.851 0.080 1 15445717 missense variant C/T snv 4.4E-03 3.8E-03 0.020 1.000 2 2010 2017
dbSNP: rs497078
rs497078
CTRC
2 0.925 0.040 1 15440540 synonymous variant C/A;T snv 3.7E-03; 9.1E-02 0.020 1.000 2 2013 2017
dbSNP: rs1553134935
rs1553134935
CTRC
1 1.000 0.040 1 15445655 frameshift variant CATCG/- delins 0.700 0
dbSNP: rs980303898
rs980303898
GCG ; LOC101929532
4 0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
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: 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: 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: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.100 0.967 30 2001 2017
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: 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: rs148954387
rs148954387
SPINK1
3 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 0
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: rs9111
rs9111
BACH2
1 1.000 0.040 6 90271934 5 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
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
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.060 1.000 6 2001 2017
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.060 1.000 6 2001 2017
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.040 0.750 4 2015 2020
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: rs111033566
rs111033566
PRSS1
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
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: 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: rs1554499091
rs1554499091
PRSS1
2 0.925 0.040 7 142751884 missense variant T/C snv 0.010 1.000 1 2016 2016