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rs863225135

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225135(A;G)
Make rs863225135(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135427244
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225135
ebirs863225135
HLIrs863225135
Exacrs863225135
Varsomers863225135
Maprs863225135
PheGenIrs863225135
hapmaprs863225135
1000 genomesrs863225135
hgdprs863225135
ensemblrs863225135
gopubmedrs863225135
geneviewrs863225135
scholarrs863225135
googlers863225135
pharmgkbrs863225135
gwascentralrs863225135
openSNPrs863225135
23andMers863225135
23andMe allrs863225135
SNP Nexus

SNPshotrs863225135
SNPdbers863225135
MSV3drs863225135
GWAS Ctlgrs863225135
Max Magnitude0
ClinVar
Risk rs863225135(G;G)
Alt rs863225135(G;G)
Reference rs863225135(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135748382T>C
CLNSRC
CLNACC RCV000201566.1,