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rs863225139

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225139(A;A)
Make rs863225139(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135431284
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225139
ebirs863225139
HLIrs863225139
Exacrs863225139
Varsomers863225139
Maprs863225139
PheGenIrs863225139
hapmaprs863225139
1000 genomesrs863225139
hgdprs863225139
ensemblrs863225139
gopubmedrs863225139
geneviewrs863225139
scholarrs863225139
googlers863225139
pharmgkbrs863225139
gwascentralrs863225139
openSNPrs863225139
23andMers863225139
23andMe allrs863225139
SNP Nexus

SNPshotrs863225139
SNPdbers863225139
MSV3drs863225139
GWAS Ctlgrs863225139
Max Magnitude0
ClinVar
Risk rs863225139(A;A)
Alt rs863225139(A;A)
Reference rs863225139(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135752422C>T
CLNSRC
CLNACC RCV000201786.1,