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rs151107532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs151107532(G;G)
Make rs151107532(G;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position42486463
GeneRSPH1
is asnp
is mentioned by
dbSNPrs151107532
dbSNP (classic)rs151107532
ClinGenrs151107532
ebirs151107532
HLIrs151107532
Exacrs151107532
Gnomadrs151107532
Varsomers151107532
LitVarrs151107532
Maprs151107532
PheGenIrs151107532
Biobankrs151107532
1000 genomesrs151107532
hgdprs151107532
ensemblrs151107532
geneviewrs151107532
scholarrs151107532
googlers151107532
pharmgkbrs151107532
gwascentralrs151107532
openSNPrs151107532
23andMers151107532
SNPshotrs151107532
SNPdbers151107532
MSV3drs151107532
GWAS Ctlgrs151107532
Max Magnitude0
ClinVar
Risk rs151107532(G;G)
Alt rs151107532(G;G)
Reference Rs151107532(T;T)
Significance Pathogenic
Disease Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000021.8:g.43906573T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000057512.5, RCV000190924.1, RCV000467674.1,