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rs784133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs784133(C;C)
Make rs784133(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116629670
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs784133
ebirs784133
HLIrs784133
Exacrs784133
Varsomers784133
Maprs784133
PheGenIrs784133
hapmaprs784133
1000 genomesrs784133
hgdprs784133
ensemblrs784133
gopubmedrs784133
geneviewrs784133
scholarrs784133
googlers784133
pharmgkbrs784133
gwascentralrs784133
openSNPrs784133
23andMers784133
23andMe allrs784133
SNP Nexus

SNPshotrs784133
SNPdbers784133
MSV3drs784133
GWAS Ctlgrs784133
GMAF0.3421
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 22448264OA-icon.png] Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients


GET Evidence
RSPH4A-L589P
aa_change Leu589Pro
aa_change_short L589P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.700502
summary



ClinVar
Risk rs784133(C;C)
Alt rs784133(C;C)
Reference rs784133(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene RSPH4A
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.116950833T>C
CLNSRC
CLNACC RCV000151747.3,