Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777060
rs587777060
RSPH1
0.800 GeneticVariation UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs587777060
rs587777060
RSPH1
0.800 GeneticVariation UNIPROT Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013
dbSNP: rs587777060
rs587777060
RSPH1
T 0.800 CausalMutation CLINVAR