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: 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: 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: 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
dbSNP: rs397508790
rs397508790
CFTR
1 1.000 0.040 7 117535399 missense variant T/A snv 0.700 1.000 6 1995 2007
dbSNP: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.720 1.000 2 1999 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: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.710 1.000 1 1998 1998
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: 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: 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