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rs140259402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140259402(C;T)
Make rs140259402(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position130402686
GeneCEP41
is asnp
is mentioned by
dbSNPrs140259402
ebirs140259402
HLIrs140259402
Exacrs140259402
Varsomers140259402
Maprs140259402
PheGenIrs140259402
hapmaprs140259402
1000 genomesrs140259402
hgdprs140259402
ensemblrs140259402
gopubmedrs140259402
geneviewrs140259402
scholarrs140259402
googlers140259402
pharmgkbrs140259402
gwascentralrs140259402
openSNPrs140259402
23andMers140259402
23andMe allrs140259402
SNP Nexus

SNPshotrs140259402
SNPdbers140259402
MSV3drs140259402
GWAS Ctlgrs140259402
Max Magnitude0
ClinVar
Risk rs140259402(T;T)
Alt rs140259402(T;T)
Reference rs140259402(C;C)
Significance Pathogenic
Disease Joubert syndrome 12/15
Variation info
Gene CEP41
CLNDBN Joubert syndrome 12/15, digenic
Reversed 0
HGVS NC_000007.13:g.130042527C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023826.2,