Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515340
rs397515340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs397515340
rs397515340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 CausalMutation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013

dbSNP: rs397515340
rs397515340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 CausalMutation CLINVAR From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula. 22384920

2012

dbSNP: rs397515340
rs397515340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
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

dbSNP: rs775136764
rs775136764
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017