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: rs193922501
rs193922501
CFTR
2 0.925 0.160 7 117480108 missense variant C/T snv 2.4E-05 2.8E-05 0.700 1.000 11 1997 2012