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rs367543062

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543062(A;A)
Make rs367543062(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37167046
GeneC5orf42
is asnp
is mentioned by
dbSNPrs367543062
ebirs367543062
HLIrs367543062
Exacrs367543062
Varsomers367543062
Maprs367543062
PheGenIrs367543062
hapmaprs367543062
1000 genomesrs367543062
hgdprs367543062
ensemblrs367543062
gopubmedrs367543062
geneviewrs367543062
scholarrs367543062
googlers367543062
pharmgkbrs367543062
gwascentralrs367543062
openSNPrs367543062
23andMers367543062
23andMe allrs367543062
SNP Nexus

SNPshotrs367543062
SNPdbers367543062
MSV3drs367543062
GWAS Ctlgrs367543062
Max Magnitude0
ClinVar
Risk rs367543062(A;A)
Alt rs367543062(A;A)
Reference rs367543062(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37167148C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024219.4,


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