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rs267606641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606641(C;T)
Make rs267606641(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135447022
GeneAHI1
is asnp
is mentioned by
dbSNPrs267606641
ebirs267606641
HLIrs267606641
Exacrs267606641
Varsomers267606641
Maprs267606641
PheGenIrs267606641
hapmaprs267606641
1000 genomesrs267606641
hgdprs267606641
ensemblrs267606641
gopubmedrs267606641
geneviewrs267606641
scholarrs267606641
googlers267606641
pharmgkbrs267606641
gwascentralrs267606641
openSNPrs267606641
23andMers267606641
23andMe allrs267606641
SNP Nexus

SNPshotrs267606641
SNPdbers267606641
MSV3drs267606641
GWAS Ctlgrs267606641
Max Magnitude0
ClinVar
Risk rs267606641(T;T)
Alt rs267606641(T;T)
Reference rs267606641(C;C)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135768160G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002091.3,