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: 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: 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: 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: rs397508790
rs397508790
CFTR
1 1.000 0.040 7 117535399 missense variant T/A snv 0.700 1.000 6 1995 2007
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: 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: 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: rs1800098
rs1800098
CFTR
1 1.000 0.040 7 117590400 missense variant G/C;T snv 5.1E-03; 4.0E-06 0.800 0
dbSNP: rs397508727
rs397508727
CFTR
1 1.000 0.040 7 117531101 stop gained T/A;C snv 8.0E-06 0.700 0
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: 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: 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