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: rs1039049
rs1039049
CFAP299
1 1.000 0.040 4 80416472 intron variant G/A snv 0.98 0.700 1.000 1 2015 2015