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rs200382776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200382776(C;T)
Make rs200382776(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position42477286
GeneRSPH1
is asnp
is mentioned by
dbSNPrs200382776
dbSNP (classic)rs200382776
ClinGenrs200382776
ebirs200382776
HLIrs200382776
Exacrs200382776
Gnomadrs200382776
Varsomers200382776
LitVarrs200382776
Maprs200382776
PheGenIrs200382776
Biobankrs200382776
1000 genomesrs200382776
hgdprs200382776
ensemblrs200382776
geneviewrs200382776
scholarrs200382776
googlers200382776
pharmgkbrs200382776
gwascentralrs200382776
openSNPrs200382776
23andMers200382776
SNPshotrs200382776
SNPdbers200382776
MSV3drs200382776
GWAS Ctlgrs200382776
Max Magnitude0
ClinVar
Risk rs200382776(T;T)
Alt rs200382776(T;T)
Reference Rs200382776(C;C)
Significance Pathogenic
Disease Kartagener syndrome
Variation info
Gene RSPH1
CLNDBN Kartagener syndrome
Reversed 0
HGVS NC_000021.8:g.43897396C>T
CLNSRC
CLNACC RCV000190928.1,