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: 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