RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777060
rs587777060
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		0.800 GeneticVariation UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
dbSNP: rs587777060
rs587777060
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		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
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		T 0.800 CausalMutation CLINVAR
dbSNP: rs138320978
rs138320978
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
dbSNP: rs138320978
rs138320978
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
dbSNP: rs138320978
rs138320978
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
dbSNP: rs138320978
rs138320978
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672 2014
dbSNP: rs151107532
rs151107532
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672 2014
dbSNP: rs151107532
rs151107532
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
dbSNP: rs151107532
rs151107532
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		G 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
dbSNP: rs587777059
rs587777059
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
dbSNP: rs587777635
rs587777635
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672 2014
dbSNP: rs138320978
rs138320978
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
dbSNP: rs151107532
rs151107532
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
dbSNP: rs200382776
rs200382776
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
dbSNP: rs1060501861
rs1060501861
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs1064792947
rs1064792947
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138320978
rs138320978
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		A 0.700 CausalMutation CLINVAR
dbSNP: rs144037391
rs144037391
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		C 0.700 CausalMutation CLINVAR
dbSNP: rs151107532
rs151107532
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555875358
rs1555875358
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR
dbSNP: rs200382776
rs200382776
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		T 0.700 CausalMutation CLINVAR
dbSNP: rs556286752
rs556286752
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0008780
Disease:
Ciliary Motility Disorders 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs587777058
rs587777058
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777058
rs587777058
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C3809634
Disease:
CILIARY DYSKINESIA, PRIMARY, 24 		T 0.700 CausalMutation CLINVAR