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: rs66491909
rs66491909
RNF128
1 1.000 0.080 X 106732269 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs76047242
rs76047242
TBC1D8B ; MORC4
1 1.000 0.080 X 106816683 intron variant C/T snv 2.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs10392
rs10392
PPP1R16B
6 0.882 0.160 20 38922292 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
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: rs11649684
rs11649684
BCAR1
1 1.000 0.080 16 75269081 upstream gene variant G/A snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs8055167
rs8055167
CTRB1 ; CTRB2
1 1.000 0.080 16 75220991 intron variant T/C snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs9928842
rs9928842
CTRB2
1 1.000 0.080 16 75208969 upstream gene variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs59536457
rs59536457
KRT8
2 0.925 0.080 12 52904795 missense variant T/C snv 4.1E-03 3.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs10787903
rs10787903
EIF3A
1 1.000 0.080 10 119064457 intron variant T/C snv 0.49 0.700 1.000 1 2018 2018
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: 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: 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: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs13239736
rs13239736 		1 1.000 0.080 7 142620329 downstream gene variant G/T snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs138700403
rs138700403
PRSS2
1 1.000 0.080 7 142768604 intron variant A/C snv 5.2E-04 0.700 1.000 1 2018 2018
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: 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: rs17211
rs17211
TRBV20-1
1 1.000 0.080 7 142627230 missense variant C/A snv 0.13; 3.2E-05 9.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs17251
rs17251
TRBV27
3 0.925 0.120 7 142715462 intron variant C/A snv 0.33 0.37 0.700 1.000 1 2018 2018
dbSNP: rs17777717
rs17777717 		1 1.000 0.080 7 142783765 upstream gene variant G/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1799886
rs1799886 		1 1.000 0.080 7 142800839 upstream gene variant T/C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs1800907
rs1800907 		3 0.925 0.120 7 142800425 upstream gene variant T/C snv 0.56 0.700 1.000 1 2018 2018