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rs863225147

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225147(A;T)
Make rs863225147(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135438414
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225147
ebirs863225147
HLIrs863225147
Exacrs863225147
Varsomers863225147
Maprs863225147
PheGenIrs863225147
hapmaprs863225147
1000 genomesrs863225147
hgdprs863225147
ensemblrs863225147
gopubmedrs863225147
geneviewrs863225147
scholarrs863225147
googlers863225147
pharmgkbrs863225147
gwascentralrs863225147
openSNPrs863225147
23andMers863225147
23andMe allrs863225147
SNP Nexus

SNPshotrs863225147
SNPdbers863225147
MSV3drs863225147
GWAS Ctlgrs863225147
Max Magnitude0
ClinVar
Risk rs863225147(T;T)
Alt rs863225147(T;T)
Reference rs863225147(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135759552T>A
CLNSRC
CLNACC RCV000201632.1,