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rs118204041

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Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204041(C;T)
Make rs118204041(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116617083
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs118204041
ebirs118204041
HLIrs118204041
Exacrs118204041
Varsomers118204041
Maprs118204041
PheGenIrs118204041
hapmaprs118204041
1000 genomesrs118204041
hgdprs118204041
ensemblrs118204041
gopubmedrs118204041
geneviewrs118204041
scholarrs118204041
googlers118204041
pharmgkbrs118204041
gwascentralrs118204041
openSNPrs118204041
23andMers118204041
23andMe allrs118204041
SNP Nexus

SNPshotrs118204041
SNPdbers118204041
MSV3drs118204041
GWAS Ctlgrs118204041
Max Magnitude0
OMIM612647
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204041(T;T)
Alt rs118204041(T;T)
Reference rs118204041(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia Primary ciliary dyskinesia
Variation info
Gene RSPH4A
CLNDBN Ciliary dyskinesia, primary, 11 Primary ciliary dyskinesia
Reversed 0
HGVS NC_000006.11:g.116938246C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000532.4, RCV000226196.1,