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rs863225430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225430(A;G)
Make rs863225430(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position94003785
GeneARL13B
is asnp
is mentioned by
dbSNPrs863225430
dbSNP (classic)rs863225430
ClinGenrs863225430
ebirs863225430
HLIrs863225430
Exacrs863225430
Gnomadrs863225430
Varsomers863225430
LitVarrs863225430
Maprs863225430
PheGenIrs863225430
Biobankrs863225430
1000 genomesrs863225430
hgdprs863225430
ensemblrs863225430
geneviewrs863225430
scholarrs863225430
googlers863225430
pharmgkbrs863225430
gwascentralrs863225430
openSNPrs863225430
23andMers863225430
SNPshotrs863225430
SNPdbers863225430
MSV3drs863225430
GWAS Ctlgrs863225430
Max Magnitude0
ClinVar
Risk rs863225430(G;G)
Alt rs863225430(G;G)
Reference Rs863225430(A;A)
Significance Pathogenic
Disease Joubert syndrome 8
Variation info
Gene ARL13B
CLNDBN Joubert syndrome 8
Reversed 0
HGVS NC_000003.11:g.93722629A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202353.1,