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rs367543065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543065(A;G)
Make rs367543065(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110619834
GeneTCTN1
is asnp
is mentioned by
dbSNPrs367543065
ebirs367543065
HLIrs367543065
Exacrs367543065
Varsomers367543065
Maprs367543065
PheGenIrs367543065
hapmaprs367543065
1000 genomesrs367543065
hgdprs367543065
ensemblrs367543065
gopubmedrs367543065
geneviewrs367543065
scholarrs367543065
googlers367543065
pharmgkbrs367543065
gwascentralrs367543065
openSNPrs367543065
23andMers367543065
23andMe allrs367543065
SNP Nexus

SNPshotrs367543065
SNPdbers367543065
MSV3drs367543065
GWAS Ctlgrs367543065
Max Magnitude0
ClinVar
Risk rs367543065(G;G)
Alt rs367543065(G;G)
Reference rs367543065(A;A)
Significance Pathogenic
Disease Joubert syndrome 13
Variation info
Gene TCTN1
CLNDBN Joubert syndrome 13
Reversed 0
HGVS NC_000012.11:g.111057639A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023788.3,


[PMID 21725307OA-icon.png] A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.