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rs863225133

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225133(A;G)
Make rs863225133(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135457530
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225133
ebirs863225133
HLIrs863225133
Exacrs863225133
Varsomers863225133
Maprs863225133
PheGenIrs863225133
hapmaprs863225133
1000 genomesrs863225133
hgdprs863225133
ensemblrs863225133
gopubmedrs863225133
geneviewrs863225133
scholarrs863225133
googlers863225133
pharmgkbrs863225133
gwascentralrs863225133
openSNPrs863225133
23andMers863225133
23andMe allrs863225133
SNP Nexus

SNPshotrs863225133
SNPdbers863225133
MSV3drs863225133
GWAS Ctlgrs863225133
Max Magnitude0
ClinVar
Risk rs863225133(G;G)
Alt rs863225133(G;G)
Reference rs863225133(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135778668T>C
CLNSRC
CLNACC RCV000201728.1,