Gene: CFAP300 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555071691
rs1555071691
CFAP300
0.800 GeneticVariation UNIPROT Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. 29727693

2018
dbSNP: rs1555071691
rs1555071691
CFAP300
0.800 GeneticVariation UNIPROT C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 29727692

2018