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rs121912607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912607(A;A)
Make rs121912607(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position94003774
GeneARL13B
is asnp
is mentioned by
dbSNPrs121912607
ebirs121912607
HLIrs121912607
Exacrs121912607
Varsomers121912607
Maprs121912607
PheGenIrs121912607
hapmaprs121912607
1000 genomesrs121912607
hgdprs121912607
ensemblrs121912607
gopubmedrs121912607
geneviewrs121912607
scholarrs121912607
googlers121912607
pharmgkbrs121912607
gwascentralrs121912607
openSNPrs121912607
23andMers121912607
23andMe allrs121912607
SNP Nexus

SNPshotrs121912607
SNPdbers121912607
MSV3drs121912607
GWAS Ctlgrs121912607
Max Magnitude0
OMIM608922
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912607(A;A)
Alt rs121912607(A;A)
Reference rs121912607(G;G)
Significance Pathogenic
Disease Joubert syndrome 8
Variation info
Gene ARL13B
CLNDBN Joubert syndrome 8
Reversed 0
HGVS NC_000003.11:g.93722618G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002069.3,