Source: CURATED ×
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: rs10273639
rs10273639
PRSS1
2 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.820 0.667 1 2012 2020
dbSNP: rs12688220
rs12688220
MORC4
1 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.810 1.000 1 2012 2020
dbSNP: rs2995271
rs2995271
LOC101929279
1 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.800 1.000 1 2012 2012
dbSNP: rs379742
rs379742 		1 1.000 0.040 X 106250703 intergenic variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
2 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.710 1.000 1 2012 2020
dbSNP: rs12008279
rs12008279
CLDN2 ; MORC4
2 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12014762
rs12014762
MORC4
2 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs4409525
rs4409525
MORC4
1 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs4437130
rs4437130 		2 1.000 0.040 3 2035283 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs5917027
rs5917027
CLDN2 ; MORC4
1 1.000 0.040 X 106919404 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62561366
rs62561366 		2 1.000 0.040 9 95555669 intergenic variant A/T snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs6622126
rs6622126
MORC4
2 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
1 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs886037774
rs886037774
LPL
6 0.882 0.120 8 19955993 missense variant T/C snv 0.700 0
dbSNP: rs886037775
rs886037775
LPL
6 0.882 0.120 8 19960948 missense variant A/T snv 0.700 0