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rs863225146

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225146(G;T)
Make rs863225146(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135431220
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225146
ebirs863225146
HLIrs863225146
Exacrs863225146
Varsomers863225146
Maprs863225146
PheGenIrs863225146
hapmaprs863225146
1000 genomesrs863225146
hgdprs863225146
ensemblrs863225146
gopubmedrs863225146
geneviewrs863225146
scholarrs863225146
googlers863225146
pharmgkbrs863225146
gwascentralrs863225146
openSNPrs863225146
23andMers863225146
23andMe allrs863225146
SNP Nexus

SNPshotrs863225146
SNPdbers863225146
MSV3drs863225146
GWAS Ctlgrs863225146
Max Magnitude0
ClinVar
Risk rs863225146(T;T)
Alt rs863225146(T;T)
Reference rs863225146(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135752358C>A
CLNSRC
CLNACC RCV000201540.1,