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: rs193922532
rs193922532
CFTR
2 0.925 0.160 7 117536629 stop gained C/G snv 7.0E-06 0.700 1.000 8 2000 2019