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: rs1300867348
rs1300867348
CFTR
2 0.925 0.040 7 117664776 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1324057519
rs1324057519
TGFB1
1 1.000 0.040 19 41352695 missense variant T/C snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs138338446
rs138338446
CFTR
1 1.000 0.040 7 117535269 missense variant G/A snv 2.3E-04 4.5E-04 0.010 1.000 1 2008 2008
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs202179988
rs202179988
CFTR
2 0.925 0.160 7 117611649 missense variant C/T snv 4.8E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs34911792
rs34911792
CFTR
2 0.925 0.160 7 117627758 missense variant T/G snv 5.0E-03 5.7E-03 0.010 1.000 1 2011 2011
dbSNP: rs397508142
rs397508142
CFTR
1 1.000 0.040 7 117540242 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs397508187
rs397508187
CFTR ; CFTR-AS1
2 0.925 0.160 7 117548746 missense variant C/A;T snv 8.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs397508392
rs397508392
CFTR
1 1.000 0.040 7 117594961 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs397508521
rs397508521
CFTR
1 1.000 0.040 7 117611682 missense variant G/C snv 0.010 1.000 1 2004 2004
dbSNP: rs397508592
rs397508592
CFTR
1 1.000 0.040 7 117530989 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs397508619
rs397508619
CFTR
1 1.000 0.040 7 117642588 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs397508696
rs397508696
CFTR
1 1.000 0.040 7 117665523 stop gained G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs73215912
rs73215912
CFTR ; CFTR-AS1
1 1.000 0.040 7 117542024 missense variant A/C snv 4.0E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs74503330
rs74503330
CFTR
2 0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs78769542
rs78769542
CFTR
2 0.925 0.160 7 117611650 missense variant G/A;C snv 6.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.020 1.000 2 2007 2011
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
3 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.020 1.000 2 2005 2008
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.080 1.000 8 1998 2018
dbSNP: rs73715573
rs73715573
CFTR ; CFTR-AS1
2 0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-03 0.700 1.000 10 1992 2007
dbSNP: rs140502196
rs140502196
CFTR
1 1.000 0.040 7 117530957 missense variant C/G;T snv 6.0E-05 0.700 1.000 6 1995 2007
dbSNP: rs141033578
rs141033578
CFTR
2 0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 6 1995 2007
dbSNP: rs1800100
rs1800100
CFTR
2 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.700 1.000 6 1995 2007
dbSNP: rs1800103
rs1800103
CFTR
2 0.925 0.160 7 117592588 missense variant A/G snv 7.7E-04 4.4E-04 0.700 1.000 6 1995 2007