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rs863225143

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225143(A;A)
Make rs863225143(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135455818
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225143
ebirs863225143
HLIrs863225143
Exacrs863225143
Varsomers863225143
Maprs863225143
PheGenIrs863225143
hapmaprs863225143
1000 genomesrs863225143
hgdprs863225143
ensemblrs863225143
gopubmedrs863225143
geneviewrs863225143
scholarrs863225143
googlers863225143
pharmgkbrs863225143
gwascentralrs863225143
openSNPrs863225143
23andMers863225143
23andMe allrs863225143
SNP Nexus

SNPshotrs863225143
SNPdbers863225143
MSV3drs863225143
GWAS Ctlgrs863225143
Max Magnitude0
ClinVar
Risk rs863225143(A;A)
Alt rs863225143(A;A)
Reference rs863225143(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135776956C>T
CLNSRC
CLNACC RCV000201621.1,