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: rs762691
rs762691 		1 1.000 0.080 7 142809001 downstream gene variant T/C snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs768255958
rs768255958
PRSS1
2 0.925 0.080 7 142751805 missense variant A/G snv 4.0E-06 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: 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: 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: 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: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.710 1.000 2 2015 2018
dbSNP: rs10465287
rs10465287 		1 1.000 0.080 X 106545130 intergenic variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs11092578
rs11092578
MORC4
1 1.000 0.080 X 106983213 intron variant C/T snv 0.17 0.700 1.000 1 2018 2018
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: rs12014762
rs12014762
MORC4
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12688091
rs12688091
NUP62CL
1 1.000 0.080 X 107131628 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs12688220
rs12688220
MORC4
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs12847061
rs12847061
PIH1D3
1 1.000 0.080 X 107230661 intron variant C/T snv 5.6E-02 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: rs12857658
rs12857658 		1 1.000 0.080 X 107281285 intergenic variant G/A snv 5.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs1298993
rs1298993 		1 1.000 0.080 X 107043226 regulatory region variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs138520829
rs138520829 		1 1.000 0.080 X 106504267 intergenic variant T/C snv 5.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs141052845
rs141052845
MORC4
1 1.000 0.080 X 106964394 intron variant A/G snv 5.1E-02 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: rs148771016
rs148771016 		1 1.000 0.080 X 107318205 intergenic variant A/C snv 5.1E-02 0.700 1.000 1 2018 2018