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: rs1800100
rs1800100
CFTR
2 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.700 1.000 6 1995 2007