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: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.700 0
dbSNP: rs78756941
rs78756941
CFTR
4 0.851 0.160 7 117531115 splice donor variant G/T snv 7.7E-05 1.0E-04 0.700 0
dbSNP: rs78802634
rs78802634
CFTR
4 0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05 0.700 0
dbSNP: rs79850223
rs79850223
CFTR
4 0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs80224560
rs80224560
CFTR
4 0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 0.700 0
dbSNP: rs80282562
rs80282562
CFTR
4 0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05 0.700 0