Gene: CFTR ×
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: rs74571530
rs74571530
CFTR ; CFTR-AS1
3 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.700 0
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs397508687
rs397508687
CFTR
5 0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06 0.020 1.000 2 2000 2008
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.020 1.000 2 2000 2008
dbSNP: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.010 < 0.001 1 2014 2014
dbSNP: rs397508139
rs397508139
CFTR
3 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs772223589
rs772223589
CFTR
3 0.925 0.120 7 117590391 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2010 2010