Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768986129
rs768986129
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 CausalMutation CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057

2013

dbSNP: rs768986129
rs768986129
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 CausalMutation CLINVAR Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. 22448264

2012

dbSNP: rs768986129
rs768986129
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 CausalMutation CLINVAR Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 19200523

2009