Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034327724
rs1034327724
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs118204041
rs118204041
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs118204042
rs118204042
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs118204043
rs118204043
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs371374918
rs371374918
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs750528020
rs750528020
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs756868889
rs756868889
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs768986129
rs768986129
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs869320683
rs869320683
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs768986129
rs768986129
0.700 CausalMutation CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057

2014

dbSNP: rs869320683
rs869320683
0.700 CausalMutation CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057

2014

dbSNP: rs750528020
rs750528020
0.700 CausalMutation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013

dbSNP: rs756868889
rs756868889
0.700 CausalMutation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013

dbSNP: rs118204043
rs118204043
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
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: rs118204043
rs118204043
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: rs768986129
rs768986129
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