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rs796052117

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052117(C;T)
Make rs796052117(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position158993853
GeneRSPH3
is asnp
is mentioned by
dbSNPrs796052117
ebirs796052117
HLIrs796052117
Exacrs796052117
Varsomers796052117
Maprs796052117
PheGenIrs796052117
hapmaprs796052117
1000 genomesrs796052117
hgdprs796052117
ensemblrs796052117
gopubmedrs796052117
geneviewrs796052117
scholarrs796052117
googlers796052117
pharmgkbrs796052117
gwascentralrs796052117
openSNPrs796052117
23andMers796052117
23andMe allrs796052117
SNP Nexus

SNPshotrs796052117
SNPdbers796052117
MSV3drs796052117
GWAS Ctlgrs796052117
Max Magnitude0
ClinVar
Risk rs796052117(T;T)
Alt rs796052117(T;T)
Reference rs796052117(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH3
CLNDBN Ciliary dyskinesia, primary, 32
Reversed 1
HGVS NC_000006.11:g.159414885G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186567.2,