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rs397515488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515488(C;T)
Make rs397515488(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position43645150
GeneRSPH9
is asnp
is mentioned by
dbSNPrs397515488
ebirs397515488
HLIrs397515488
Exacrs397515488
Varsomers397515488
Maprs397515488
PheGenIrs397515488
hapmaprs397515488
1000 genomesrs397515488
hgdprs397515488
ensemblrs397515488
gopubmedrs397515488
geneviewrs397515488
scholarrs397515488
googlers397515488
pharmgkbrs397515488
gwascentralrs397515488
openSNPrs397515488
23andMers397515488
23andMe allrs397515488
SNP Nexus

SNPshotrs397515488
SNPdbers397515488
MSV3drs397515488
GWAS Ctlgrs397515488
Max Magnitude0
ClinVar
Risk rs397515488(T;T)
Alt rs397515488(T;T)
Reference rs397515488(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH9
CLNDBN Ciliary dyskinesia, primary, 12
Reversed 0
HGVS NC_000006.11:g.43612887C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057517.3,