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rs863225142

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225142(A;T)
Make rs863225142(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135465827
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225142
ebirs863225142
HLIrs863225142
Exacrs863225142
Varsomers863225142
Maprs863225142
PheGenIrs863225142
hapmaprs863225142
1000 genomesrs863225142
hgdprs863225142
ensemblrs863225142
gopubmedrs863225142
geneviewrs863225142
scholarrs863225142
googlers863225142
pharmgkbrs863225142
gwascentralrs863225142
openSNPrs863225142
23andMers863225142
23andMe allrs863225142
SNP Nexus

SNPshotrs863225142
SNPdbers863225142
MSV3drs863225142
GWAS Ctlgrs863225142
Max Magnitude0
ClinVar
Risk rs863225142(T;T)
Alt rs863225142(T;T)
Reference rs863225142(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135786965T>A
CLNSRC
CLNACC RCV000201760.1,