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rs118204043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204043(C;T)
Make rs118204043(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116628175
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs118204043
ebirs118204043
HLIrs118204043
Exacrs118204043
Varsomers118204043
Maprs118204043
PheGenIrs118204043
hapmaprs118204043
1000 genomesrs118204043
hgdprs118204043
ensemblrs118204043
gopubmedrs118204043
geneviewrs118204043
scholarrs118204043
googlers118204043
pharmgkbrs118204043
gwascentralrs118204043
openSNPrs118204043
23andMers118204043
23andMe allrs118204043
SNP Nexus

SNPshotrs118204043
SNPdbers118204043
MSV3drs118204043
GWAS Ctlgrs118204043
Max Magnitude0
OMIM612647
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204043(T;T)
Alt rs118204043(T;T)
Reference rs118204043(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH4A
CLNDBN Ciliary dyskinesia, primary, 11
Reversed 0
HGVS NC_000006.11:g.116949338C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000534.4,