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: rs201124247
rs201124247
CFTR
3 0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05 0.800 1.000 51 1990 2016