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rs541041911

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs541041911(C;C)
Make rs541041911(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135438435
GeneAHI1
is asnp
is mentioned by
dbSNPrs541041911
ebirs541041911
HLIrs541041911
Exacrs541041911
Varsomers541041911
Maprs541041911
PheGenIrs541041911
hapmaprs541041911
1000 genomesrs541041911
hgdprs541041911
ensemblrs541041911
gopubmedrs541041911
geneviewrs541041911
scholarrs541041911
googlers541041911
pharmgkbrs541041911
gwascentralrs541041911
openSNPrs541041911
23andMers541041911
23andMe allrs541041911
SNP Nexus

SNPshotrs541041911
SNPdbers541041911
MSV3drs541041911
GWAS Ctlgrs541041911
Max Magnitude0
ClinVar
Risk rs541041911(C;C)
Alt rs541041911(C;C)
Reference rs541041911(T;T)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135759573T>A
CLNSRC
CLNACC RCV000201711.1,