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

rs139675596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139675596(A;A)
Make rs139675596(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37165595
GeneC5orf42
is asnp
is mentioned by
dbSNPrs139675596
ebirs139675596
HLIrs139675596
Exacrs139675596
Varsomers139675596
Maprs139675596
PheGenIrs139675596
hapmaprs139675596
1000 genomesrs139675596
hgdprs139675596
ensemblrs139675596
gopubmedrs139675596
geneviewrs139675596
scholarrs139675596
googlers139675596
pharmgkbrs139675596
gwascentralrs139675596
openSNPrs139675596
23andMers139675596
23andMe allrs139675596
SNP Nexus

SNPshotrs139675596
SNPdbers139675596
MSV3drs139675596
GWAS Ctlgrs139675596
Max Magnitude0
ClinVar
Risk rs139675596(A;A)
Alt rs139675596(A;A)
Reference rs139675596(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37165697G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024222.4,


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