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rs138320978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138320978(A;A)
Make rs138320978(A;C)
ReferenceGRCh38 38.1/142
Chromosome21
Position42493049
GeneRSPH1
is asnp
is mentioned by
dbSNPrs138320978
ebirs138320978
HLIrs138320978
Exacrs138320978
Varsomers138320978
Maprs138320978
PheGenIrs138320978
hapmaprs138320978
1000 genomesrs138320978
hgdprs138320978
ensemblrs138320978
gopubmedrs138320978
geneviewrs138320978
scholarrs138320978
googlers138320978
pharmgkbrs138320978
gwascentralrs138320978
openSNPrs138320978
23andMers138320978
23andMe allrs138320978
SNP Nexus

SNPshotrs138320978
SNPdbers138320978
MSV3drs138320978
GWAS Ctlgrs138320978
Max Magnitude0
ClinVar
Risk rs138320978(A,T;A,T)
Alt rs138320978(A,T;A,T)
Reference rs138320978(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia 24 Kartagener syndrome
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia 24 Kartagener syndrome
Reversed 0
HGVS NC_000021.8:g.43913159C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000057509.4, RCV000190923.1,