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: rs10243591
rs10243591 		1 1.000 0.080 7 142725721 downstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1035539
rs1035539
BCAR1
1 1.000 0.080 16 75242877 missense variant G/A;C snv 0.68; 4.1E-06 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs10465287
rs10465287 		1 1.000 0.080 X 106545130 intergenic variant T/A;G snv 0.700 1.000 1 2018 2018
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 < 0.001 1 2005 2005
dbSNP: rs12008279
rs12008279
CLDN2 ; MORC4
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1285582
rs1285582
NUP62CL
1 1.000 0.080 X 107123872 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1285594
rs1285594
NUP62CL
1 1.000 0.080 X 107158099 intron variant G/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs144184641
rs144184641 		1 1.000 0.080 7 142775173 downstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs147767607
rs147767607
PRSS2
1 1.000 0.080 7 142769934 intron variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs148655558
rs148655558
RNF128
1 1.000 0.080 X 106768355 intron variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs148916504
rs148916504
PRSS2
1 1.000 0.080 7 142770747 intron variant C/G snv 0.700 1.000 1 2018 2018
dbSNP: rs149506335
rs149506335 		1 1.000 0.080 7 142776454 downstream gene variant G/C snv 0.700 1.000 1 2018 2018
dbSNP: rs192514996
rs192514996 		1 1.000 0.080 7 142778229 downstream gene variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2734221
rs2734221 		1 1.000 0.080 7 142779536 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs35031873
rs35031873 		1 1.000 0.080 7 142758607 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3857776
rs3857776
PRSS1
1 1.000 0.080 7 142751439 non coding transcript exon variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4457242
rs4457242 		1 1.000 0.080 7 142777285 downstream gene variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs4726575
rs4726575
PRSS1
1 1.000 0.080 7 142747017 upstream gene variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4826965
rs4826965 		1 1.000 0.080 X 107370118 intergenic variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs545634
rs545634
CTRC
1 1.000 0.080 1 15443607 intron variant G/A;C snv 8.9E-02; 1.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs55833042
rs55833042 		1 1.000 0.080 7 142758924 upstream gene variant C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs60096066
rs60096066 		1 1.000 0.080 7 142734441 upstream gene variant G/A;T snv 0.700 1.000 1 2018 2018