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rs111294855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111294855(C;T)
Make rs111294855(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37157382
GeneC5orf42
is asnp
is mentioned by
dbSNPrs111294855
ebirs111294855
HLIrs111294855
Exacrs111294855
Varsomers111294855
Maprs111294855
PheGenIrs111294855
hapmaprs111294855
1000 genomesrs111294855
hgdprs111294855
ensemblrs111294855
gopubmedrs111294855
geneviewrs111294855
scholarrs111294855
googlers111294855
pharmgkbrs111294855
gwascentralrs111294855
openSNPrs111294855
23andMers111294855
23andMe allrs111294855
SNP Nexus

SNPshotrs111294855
SNPdbers111294855
MSV3drs111294855
GWAS Ctlgrs111294855
Max Magnitude0
ClinVar
Risk rs111294855(T;T)
Alt rs111294855(T;T)
Reference rs111294855(C;C)
Significance Other
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37157484C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034938.4,


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