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: rs151048781
rs151048781
CFTR
2 0.925 0.160 7 117603730 missense variant G/A;C snv 5.6E-05; 8.0E-05 0.800 1.000 16 1995 2013
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.880 1.000 14 1993 2014
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: 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: rs121908752
rs121908752
CFTR
4 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.800 1.000 6 1995 2007
dbSNP: rs121908759
rs121908759
CFTR
5 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.800 1.000 6 1995 2007
dbSNP: rs121909011
rs121909011
CFTR
6 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.800 1.000 6 1995 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: rs145449046
rs145449046
CFTR
2 0.925 0.160 7 117592541 stop gained C/G;T snv 1.3E-04; 5.5E-06 0.800 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
dbSNP: rs1800111
rs1800111
CFTR
5 0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 0.700 1.000 6 1995 2007
dbSNP: rs191456345
rs191456345
CFTR
3 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.800 1.000 6 1995 2009
dbSNP: rs397508220
rs397508220
CFTR
1 1.000 0.040 7 117504348 missense variant C/A snv 7.0E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508225
rs397508225
CFTR ; CFTR-AS1
2 0.925 0.160 7 117559609 missense variant A/G snv 4.0E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508241
rs397508241
CFTR
1 1.000 0.040 7 117587785 missense variant G/T snv 0.700 1.000 6 1995 2007
dbSNP: rs397508363
rs397508363
CFTR
1 1.000 0.040 7 117592464 missense variant G/A;C;T snv 4.5E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508373
rs397508373
CFTR
1 1.000 0.040 7 117592566 missense variant C/G;T snv 5.5E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508448
rs397508448
CFTR
1 1.000 0.040 7 117603750 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508463
rs397508463
CFTR
1 1.000 0.040 7 117606704 missense variant T/A snv 8.0E-06 2.8E-05 0.700 1.000 6 1996 2011
dbSNP: rs397508567
rs397508567
CFTR
1 1.000 0.040 7 117614703 missense variant T/A snv 3.2E-05 2.8E-05 0.700 1.000 6 1995 2007
dbSNP: rs397508670
rs397508670
CFTR
1 1.000 0.040 7 117664815 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 6 1995 2007
dbSNP: rs397508718
rs397508718
CFTR
2 0.925 0.160 7 117531070 stop gained G/A;T snv 0.700 1.000 6 1995 2007
dbSNP: rs397508759
rs397508759
CFTR
4 0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 0.800 1.000 6 1995 2007