Gene: CFTR ×
Source: BEFREE ×
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: rs150157202
rs150157202
CFTR
2 0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03 0.710 1.000 1 1990 2010
dbSNP: rs17140229
rs17140229
CFTR
1 1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800076
rs1800076
CFTR
9 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 1991 2011
dbSNP: rs1800080
rs1800080
CFTR
2 0.925 0.120 7 117534330 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1800100
rs1800100
CFTR
1 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800111
rs1800111
CFTR
2 0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 0.720 1.000 2 1990 2017
dbSNP: rs186089140
rs186089140
CFTR
2 0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs191456345
rs191456345
CFTR
1 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
2 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 0.710 1.000 1 2002 2012
dbSNP: rs193922525
rs193922525
CFTR
1 1.000 0.120 7 117664770 missense variant G/A snv 0.840 1.000 4 1995 2017
dbSNP: rs200901072
rs200901072
CFTR
1 1.000 0.120 7 117603610 synonymous variant G/A;C;T snv 4.8E-05; 8.0E-06; 4.0E-06 0.010 < 0.001 1 1995 1995
dbSNP: rs202179988
rs202179988
CFTR
2 0.925 0.160 7 117611649 missense variant C/T snv 4.8E-05 2.8E-05 0.020 1.000 2 2008 2010
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.100 1.000 10 1992 2015
dbSNP: rs267606723
rs267606723
CFTR
2 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.810 1.000 1 1991 2015
dbSNP: rs34911792
rs34911792
CFTR
2 0.925 0.160 7 117627758 missense variant T/G snv 5.0E-03 5.7E-03 0.720 1.000 2 1990 2011
dbSNP: rs35516286
rs35516286
CFTR
3 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.840 1.000 4 2001 2017
dbSNP: rs36210737
rs36210737
CFTR
1 0.925 0.160 7 117611743 missense variant T/A;G snv 1.6E-05 0.820 1.000 2 1990 2015
dbSNP: rs368505753
rs368505753
CFTR
1 0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05 0.820 0.973 2 1990 2017
dbSNP: rs374946172
rs374946172
CFTR
1 0.925 0.160 7 117592520 stop gained C/T snv 1.1E-05 7.0E-06 0.710 1.000 1 2005 2014
dbSNP: rs386134230
rs386134230
CFTR
1 0.925 0.160 7 117606674 missense variant G/A snv 1.2E-05 7.0E-06 0.710 1.000 1 1999 2019
dbSNP: rs397508139
rs397508139
CFTR
2 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 1 1990 2015
dbSNP: rs397508185
rs397508185
CFTR ; CFTR-AS1
2 0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs397508188
rs397508188
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548753 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs397508195
rs397508195
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548797 missense variant G/C;T snv 0.710 1.000 1 1990 2015
dbSNP: rs397508198
rs397508198
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548823 missense variant G/A;T snv 0.010 1.000 1 2015 2015