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rs397518458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518458(G;G)
Make rs397518458(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position100162282
GeneSPAG1
is asnp
is mentioned by
dbSNPrs397518458
ebirs397518458
HLIrs397518458
Exacrs397518458
Varsomers397518458
Maprs397518458
PheGenIrs397518458
hapmaprs397518458
1000 genomesrs397518458
hgdprs397518458
ensemblrs397518458
gopubmedrs397518458
geneviewrs397518458
scholarrs397518458
googlers397518458
pharmgkbrs397518458
gwascentralrs397518458
openSNPrs397518458
23andMers397518458
23andMe allrs397518458
SNP Nexus

SNPshotrs397518458
SNPdbers397518458
MSV3drs397518458
GWAS Ctlgrs397518458
Max Magnitude0
ClinVar
Risk rs397518458(G;G)
Alt rs397518458(G;G)
Reference rs397518458(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene SPAG1
CLNDBN Ciliary dyskinesia, primary, 28
Reversed 0
HGVS NC_000008.10:g.101174510T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000074363.3,