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: 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: rs10243591
rs10243591 		1 1.000 0.080 7 142725721 downstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
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: 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: rs10465287
rs10465287 		1 1.000 0.080 X 106545130 intergenic variant T/A;G snv 0.700 1.000 1 2018 2018
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: 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: 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: 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: rs12562037
rs12562037
CELA2A
1 1.000 0.080 1 15456025 upstream gene variant T/C snv 0.13 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: 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: 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: 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: 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: 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: rs144184641
rs144184641 		1 1.000 0.080 7 142775173 downstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs144878061
rs144878061
CELA2A
1 1.000 0.080 1 15456801 splice region variant C/G snv 2.8E-02 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs146437551
rs146437551 		1 1.000 0.080 5 147808460 intergenic variant T/G snv 8.8E-03 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