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rs796052119

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052119(C;T)
Make rs796052119(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position158982502
GeneRSPH3
is asnp
is mentioned by
dbSNPrs796052119
ebirs796052119
HLIrs796052119
Exacrs796052119
Varsomers796052119
Maprs796052119
PheGenIrs796052119
hapmaprs796052119
1000 genomesrs796052119
hgdprs796052119
ensemblrs796052119
gopubmedrs796052119
geneviewrs796052119
scholarrs796052119
googlers796052119
pharmgkbrs796052119
gwascentralrs796052119
openSNPrs796052119
23andMers796052119
23andMe allrs796052119
SNP Nexus

SNPshotrs796052119
SNPdbers796052119
MSV3drs796052119
GWAS Ctlgrs796052119
Max Magnitude0
ClinVar
Risk rs796052119(T;T)
Alt rs796052119(T;T)
Reference rs796052119(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH3
CLNDBN Ciliary dyskinesia, primary, 32
Reversed 1
HGVS NC_000006.11:g.159403534G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186571.2,