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rs863225144

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225144(C;C)
Make rs863225144(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135433120
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225144
ebirs863225144
HLIrs863225144
Exacrs863225144
Varsomers863225144
Maprs863225144
PheGenIrs863225144
hapmaprs863225144
1000 genomesrs863225144
hgdprs863225144
ensemblrs863225144
gopubmedrs863225144
geneviewrs863225144
scholarrs863225144
googlers863225144
pharmgkbrs863225144
gwascentralrs863225144
openSNPrs863225144
23andMers863225144
23andMe allrs863225144
SNP Nexus

SNPshotrs863225144
SNPdbers863225144
MSV3drs863225144
GWAS Ctlgrs863225144
Max Magnitude0
ClinVar
Risk rs863225144(C;C)
Alt rs863225144(C;C)
Reference rs863225144(T;T)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754258A>G
CLNSRC
CLNACC RCV000201537.1,