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rs397515340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs397515340(-;-)
Make rs397515340(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome6
Position43670919
GeneMRPS18A, RSPH9
is asnp
is mentioned by
dbSNPrs397515340
ebirs397515340
HLIrs397515340
Exacrs397515340
Varsomers397515340
Maprs397515340
PheGenIrs397515340
hapmaprs397515340
1000 genomesrs397515340
hgdprs397515340
ensemblrs397515340
gopubmedrs397515340
geneviewrs397515340
scholarrs397515340
googlers397515340
pharmgkbrs397515340
gwascentralrs397515340
openSNPrs397515340
23andMers397515340
23andMe allrs397515340
SNP Nexus

SNPshotrs397515340
SNPdbers397515340
MSV3drs397515340
GWAS Ctlgrs397515340
Max Magnitude0
ClinVar
Risk rs397515340(;)
Alt rs397515340(;)
Reference rs397515340(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,