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rs863225134

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225134(A;G)
Make rs863225134(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135433137
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225134
ebirs863225134
HLIrs863225134
Exacrs863225134
Varsomers863225134
Maprs863225134
PheGenIrs863225134
hapmaprs863225134
1000 genomesrs863225134
hgdprs863225134
ensemblrs863225134
gopubmedrs863225134
geneviewrs863225134
scholarrs863225134
googlers863225134
pharmgkbrs863225134
gwascentralrs863225134
openSNPrs863225134
23andMers863225134
23andMe allrs863225134
SNP Nexus

SNPshotrs863225134
SNPdbers863225134
MSV3drs863225134
GWAS Ctlgrs863225134
Max Magnitude0
ClinVar
Risk rs863225134(G;G)
Alt rs863225134(G;G)
Reference rs863225134(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754275T>C
CLNSRC
CLNACC RCV000201556.1,