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: rs75096551
rs75096551
CFTR
4 0.851 0.160 7 117606754 splice donor variant G/A;C;T snv 1.0E-04 2.9E-04 0.700 1.000 5 1990 2013