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rs121434350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434350(A;A)
Make rs121434350(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135455750
GeneAHI1
is asnp
is mentioned by
dbSNPrs121434350
ebirs121434350
HLIrs121434350
Exacrs121434350
Varsomers121434350
Maprs121434350
PheGenIrs121434350
hapmaprs121434350
1000 genomesrs121434350
hgdprs121434350
ensemblrs121434350
gopubmedrs121434350
geneviewrs121434350
scholarrs121434350
googlers121434350
pharmgkbrs121434350
gwascentralrs121434350
openSNPrs121434350
23andMers121434350
23andMe allrs121434350
SNP Nexus

SNPshotrs121434350
SNPdbers121434350
MSV3drs121434350
GWAS Ctlgrs121434350
Max Magnitude0
OMIM608894
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434350(A;A)
Alt rs121434350(A;A)
Reference rs121434350(T;T)
Significance Pathogenic
Disease Joubert syndrome 3 Global developmental delay Typical Joubert syndrome MRI findings
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3 Global developmental delay Typical Joubert syndrome MRI findings
Reversed 1
HGVS NC_000006.11:g.135776888A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002089.4, RCV000162132.1,