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rs863225138

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225138(C;G)
Make rs863225138(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135465901
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225138
ebirs863225138
HLIrs863225138
Exacrs863225138
Varsomers863225138
Maprs863225138
PheGenIrs863225138
hapmaprs863225138
1000 genomesrs863225138
hgdprs863225138
ensemblrs863225138
gopubmedrs863225138
geneviewrs863225138
scholarrs863225138
googlers863225138
pharmgkbrs863225138
gwascentralrs863225138
openSNPrs863225138
23andMers863225138
23andMe allrs863225138
SNP Nexus

SNPshotrs863225138
SNPdbers863225138
MSV3drs863225138
GWAS Ctlgrs863225138
Max Magnitude0
ClinVar
Risk rs863225138(G;G)
Alt rs863225138(G;G)
Reference rs863225138(C;C)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135787039G>C
CLNSRC
CLNACC RCV000201668.1,