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rs142800871

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142800871(C;C)
Make rs142800871(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position158986423
GeneRSPH3
is asnp
is mentioned by
dbSNPrs142800871
ebirs142800871
HLIrs142800871
Exacrs142800871
Varsomers142800871
Maprs142800871
PheGenIrs142800871
hapmaprs142800871
1000 genomesrs142800871
hgdprs142800871
ensemblrs142800871
gopubmedrs142800871
geneviewrs142800871
scholarrs142800871
googlers142800871
pharmgkbrs142800871
gwascentralrs142800871
openSNPrs142800871
23andMers142800871
23andMe allrs142800871
SNP Nexus

SNPshotrs142800871
SNPdbers142800871
MSV3drs142800871
GWAS Ctlgrs142800871
Max Magnitude0
ClinVar
Risk rs142800871(C;C)
Alt rs142800871(C;C)
Reference rs142800871(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene RSPH3
CLNDBN Ciliary dyskinesia, primary, 32 Kartagener syndrome
Reversed 0
HGVS NC_000006.11:g.159407455T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000186568.2, RCV000190953.1,