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rs118204042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204042(C;T)
Make rs118204042(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116616948
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs118204042
ebirs118204042
HLIrs118204042
Exacrs118204042
Varsomers118204042
Maprs118204042
PheGenIrs118204042
hapmaprs118204042
1000 genomesrs118204042
hgdprs118204042
ensemblrs118204042
gopubmedrs118204042
geneviewrs118204042
scholarrs118204042
googlers118204042
pharmgkbrs118204042
gwascentralrs118204042
openSNPrs118204042
23andMers118204042
23andMe allrs118204042
SNP Nexus

SNPshotrs118204042
SNPdbers118204042
MSV3drs118204042
GWAS Ctlgrs118204042
Max Magnitude0
OMIM612647
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204042(T;T)
Alt rs118204042(T;T)
Reference rs118204042(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH4A
CLNDBN Ciliary dyskinesia, primary, 11
Reversed 0
HGVS NC_000006.11:g.116938111C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000533.4,