Have questions? Visit https://www.reddit.com/r/SNPedia

rs367543063

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543063(C;T)
Make rs367543063(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37183377
GeneC5orf42
is asnp
is mentioned by
dbSNPrs367543063
ebirs367543063
HLIrs367543063
Exacrs367543063
Varsomers367543063
Maprs367543063
PheGenIrs367543063
hapmaprs367543063
1000 genomesrs367543063
hgdprs367543063
ensemblrs367543063
gopubmedrs367543063
geneviewrs367543063
scholarrs367543063
googlers367543063
pharmgkbrs367543063
gwascentralrs367543063
openSNPrs367543063
23andMers367543063
23andMe allrs367543063
SNP Nexus

SNPshotrs367543063
SNPdbers367543063
MSV3drs367543063
GWAS Ctlgrs367543063
Max Magnitude0
ClinVar
Risk rs367543063(T;T)
Alt rs367543063(T;T)
Reference rs367543063(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37183479G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024221.3,


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