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rs121434349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434349(C;T)
Make rs121434349(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135455775
GeneAHI1
is asnp
is mentioned by
dbSNPrs121434349
ebirs121434349
HLIrs121434349
Exacrs121434349
Varsomers121434349
Maprs121434349
PheGenIrs121434349
hapmaprs121434349
1000 genomesrs121434349
hgdprs121434349
ensemblrs121434349
gopubmedrs121434349
geneviewrs121434349
scholarrs121434349
googlers121434349
pharmgkbrs121434349
gwascentralrs121434349
openSNPrs121434349
23andMers121434349
23andMe allrs121434349
SNP Nexus

SNPshotrs121434349
SNPdbers121434349
MSV3drs121434349
GWAS Ctlgrs121434349
Max Magnitude0
OMIM608894
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434349(A,T;A,T)
Alt rs121434349(A,T;A,T)
Reference rs121434349(C;C)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135776913G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002088.3,