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rs121912608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912608(C;T)
Make rs121912608(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position94036663
GeneARL13B
is asnp
is mentioned by
dbSNPrs121912608
ebirs121912608
HLIrs121912608
Exacrs121912608
Varsomers121912608
Maprs121912608
PheGenIrs121912608
hapmaprs121912608
1000 genomesrs121912608
hgdprs121912608
ensemblrs121912608
gopubmedrs121912608
geneviewrs121912608
scholarrs121912608
googlers121912608
pharmgkbrs121912608
gwascentralrs121912608
openSNPrs121912608
23andMers121912608
23andMe allrs121912608
SNP Nexus

SNPshotrs121912608
SNPdbers121912608
MSV3drs121912608
GWAS Ctlgrs121912608
Max Magnitude0
OMIM608922
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912608(A,T;A,T)
Alt rs121912608(A,T;A,T)
Reference rs121912608(C;C)
Significance Pathogenic
Disease Joubert syndrome 8
Variation info
Gene ARL13B
CLNDBN Joubert syndrome 8
Reversed 0
HGVS NC_000003.11:g.93755507C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002070.3,