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rs367543064

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543064(-;-)
Make rs367543064(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position37170096
GeneC5orf42
is asnp
is mentioned by
dbSNPrs367543064
ebirs367543064
HLIrs367543064
Exacrs367543064
Varsomers367543064
Maprs367543064
PheGenIrs367543064
hapmaprs367543064
1000 genomesrs367543064
hgdprs367543064
ensemblrs367543064
gopubmedrs367543064
geneviewrs367543064
scholarrs367543064
googlers367543064
pharmgkbrs367543064
gwascentralrs367543064
openSNPrs367543064
23andMers367543064
23andMe allrs367543064
SNP Nexus

SNPshotrs367543064
SNPdbers367543064
MSV3drs367543064
GWAS Ctlgrs367543064
Max Magnitude0
ClinVar
Risk rs367543064(;)
Alt rs367543064(;)
Reference rs367543064(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37170198delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024220.3,


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