Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504802
rs727504802
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013

dbSNP: rs727504802
rs727504802
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 GeneticVariation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006

dbSNP: rs727504802
rs727504802
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 GeneticVariation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002

dbSNP: rs727504802
rs727504802
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR