Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138320978
rs138320978
A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015

dbSNP: rs138320978
rs138320978
A 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568

2014

dbSNP: rs138320978
rs138320978
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
G 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568

2014

dbSNP: rs151107532
rs151107532
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: rs587777635
rs587777635
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
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
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
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
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1064792947
rs1064792947
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555875358
rs1555875358
C 0.700 CausalMutation CLINVAR

dbSNP: rs556286752
rs556286752
CT 0.700 CausalMutation CLINVAR

dbSNP: rs727503394
rs727503394
C 0.700 GeneticVariation CLINVAR