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rs397518455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518455(-;-)
Make rs397518455(-;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position116617290
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs397518455
ebirs397518455
HLIrs397518455
Exacrs397518455
Varsomers397518455
Maprs397518455
PheGenIrs397518455
hapmaprs397518455
1000 genomesrs397518455
hgdprs397518455
ensemblrs397518455
gopubmedrs397518455
geneviewrs397518455
scholarrs397518455
googlers397518455
pharmgkbrs397518455
gwascentralrs397518455
openSNPrs397518455
23andMers397518455
23andMe allrs397518455
SNP Nexus

SNPshotrs397518455
SNPdbers397518455
MSV3drs397518455
GWAS Ctlgrs397518455
Max Magnitude0
ClinVar
Risk rs397518455(;)
Alt rs397518455(;)
Reference rs397518455(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH4A
CLNDBN Ciliary dyskinesia, primary, 11
Reversed 0
HGVS NC_000006.11:g.116938453delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000057514.4,