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rs397518457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs397518457(-;-)
Make rs397518457(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome6
Position43670922
GeneMRPS18A, RSPH9
is asnp
is mentioned by
dbSNPrs397518457
ebirs397518457
HLIrs397518457
Exacrs397518457
Varsomers397518457
Maprs397518457
PheGenIrs397518457
hapmaprs397518457
1000 genomesrs397518457
hgdprs397518457
ensemblrs397518457
gopubmedrs397518457
geneviewrs397518457
scholarrs397518457
googlers397518457
pharmgkbrs397518457
gwascentralrs397518457
openSNPrs397518457
23andMers397518457
23andMe allrs397518457
SNP Nexus

SNPshotrs397518457
SNPdbers397518457
MSV3drs397518457
GWAS Ctlgrs397518457
Max Magnitude0
ClinVar
Risk rs397518457(;)
Alt rs397518457(;)
Reference rs397518457(AGA;AGA)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene MRPS18A RSPH9
CLNDBN Ciliary dyskinesia, primary, 12 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000006.11:g.43638659_43638661delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000057516.5, RCV000190874.1, RCV000234192.1,