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: rs2647087
rs2647087 		2 1.000 0.040 6 32713272 upstream gene variant A/C snv 0.29 0.020 1.000 2 2014 2018
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: rs4437130
rs4437130 		2 1.000 0.040 3 2035283 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
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: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1335550286
rs1335550286
APOE
2 1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs140808909
rs140808909
APOE
5 0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs190853081
rs190853081
APOE
3 0.925 0.080 19 44909083 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 < 0.001 1 2007 2007
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 < 0.001 1 2007 2007
dbSNP: rs756322971
rs756322971
CASR
9 0.763 0.240 3 122284955 missense variant C/A;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs397508687
rs397508687
CFTR
5 0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06 0.020 1.000 2 2000 2008
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.020 1.000 2 2000 2008
dbSNP: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.010 < 0.001 1 2014 2014
dbSNP: rs397508139
rs397508139
CFTR
3 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs772223589
rs772223589
CFTR
3 0.925 0.120 7 117590391 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
3 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.700 0
dbSNP: rs12008279
rs12008279
CLDN2 ; MORC4
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2012 2012
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: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.710 1.000 2 2012 2020
dbSNP: rs199695765
rs199695765
CPA2
2 0.925 0.160 7 130269008 stop gained C/T snv 8.8E-05 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2002 2020
dbSNP: rs1451011538
rs1451011538
CRISPLD2
2 0.925 0.080 16 84838647 missense variant T/A snv 4.0E-06 0.010 1.000 1 2008 2008