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rs367543061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543061(C;T)
Make rs367543061(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37187488
GeneC5orf42
is asnp
is mentioned by
dbSNPrs367543061
ebirs367543061
HLIrs367543061
Exacrs367543061
Varsomers367543061
Maprs367543061
PheGenIrs367543061
hapmaprs367543061
1000 genomesrs367543061
hgdprs367543061
ensemblrs367543061
gopubmedrs367543061
geneviewrs367543061
scholarrs367543061
googlers367543061
pharmgkbrs367543061
gwascentralrs367543061
openSNPrs367543061
23andMers367543061
23andMe allrs367543061
SNP Nexus

SNPshotrs367543061
SNPdbers367543061
MSV3drs367543061
GWAS Ctlgrs367543061
Max Magnitude0
ClinVar
Risk rs367543061(T;T)
Alt rs367543061(T;T)
Reference rs367543061(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37187590G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024218.5,


[PMID 22425360OA-icon.png] Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.