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rs863225145

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225145(A;A)
Make rs863225145(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135438388
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225145
ebirs863225145
HLIrs863225145
Exacrs863225145
Varsomers863225145
Maprs863225145
PheGenIrs863225145
hapmaprs863225145
1000 genomesrs863225145
hgdprs863225145
ensemblrs863225145
gopubmedrs863225145
geneviewrs863225145
scholarrs863225145
googlers863225145
pharmgkbrs863225145
gwascentralrs863225145
openSNPrs863225145
23andMers863225145
23andMe allrs863225145
SNP Nexus

SNPshotrs863225145
SNPdbers863225145
MSV3drs863225145
GWAS Ctlgrs863225145
Max Magnitude0
ClinVar
Risk rs863225145(A;A)
Alt rs863225145(A;A)
Reference rs863225145(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135759526C>T
CLNSRC
CLNACC RCV000201721.1,