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rs121434348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434348(C;T)
Make rs121434348(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135457594
GeneAHI1
is asnp
is mentioned by
dbSNPrs121434348
ebirs121434348
HLIrs121434348
Exacrs121434348
Varsomers121434348
Maprs121434348
PheGenIrs121434348
hapmaprs121434348
1000 genomesrs121434348
hgdprs121434348
ensemblrs121434348
gopubmedrs121434348
geneviewrs121434348
scholarrs121434348
googlers121434348
pharmgkbrs121434348
gwascentralrs121434348
openSNPrs121434348
23andMers121434348
23andMe allrs121434348
SNP Nexus

SNPshotrs121434348
SNPdbers121434348
MSV3drs121434348
GWAS Ctlgrs121434348
Max Magnitude0
OMIM608894
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434348(T;T)
Alt rs121434348(T;T)
Reference rs121434348(C;C)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135778732G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002087.3,