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rs121912606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912606(A;A)
Make rs121912606(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position94003764
GeneARL13B
is asnp
is mentioned by
dbSNPrs121912606
ebirs121912606
HLIrs121912606
Exacrs121912606
Varsomers121912606
Maprs121912606
PheGenIrs121912606
hapmaprs121912606
1000 genomesrs121912606
hgdprs121912606
ensemblrs121912606
gopubmedrs121912606
geneviewrs121912606
scholarrs121912606
googlers121912606
pharmgkbrs121912606
gwascentralrs121912606
openSNPrs121912606
23andMers121912606
23andMe allrs121912606
SNP Nexus

SNPshotrs121912606
SNPdbers121912606
MSV3drs121912606
GWAS Ctlgrs121912606
Max Magnitude0
OMIM608922
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912606(A;A)
Alt rs121912606(A;A)
Reference rs121912606(G;G)
Significance Pathogenic
Disease Joubert syndrome 8
Variation info
Gene ARL13B
CLNDBN Joubert syndrome 8
Reversed 0
HGVS NC_000003.11:g.93722608G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002068.2,