Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434351(A;A)
Make rs121434351(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position135433125
GeneAHI1
is asnp
is mentioned by
dbSNPrs121434351
ebirs121434351
HLIrs121434351
Exacrs121434351
Varsomers121434351
Maprs121434351
PheGenIrs121434351
hapmaprs121434351
1000 genomesrs121434351
hgdprs121434351
ensemblrs121434351
gopubmedrs121434351
geneviewrs121434351
scholarrs121434351
googlers121434351
pharmgkbrs121434351
gwascentralrs121434351
openSNPrs121434351
23andMers121434351
23andMe allrs121434351
SNP Nexus

SNPshotrs121434351
SNPdbers121434351
MSV3drs121434351
GWAS Ctlgrs121434351
Max Magnitude0
OMIM608894
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434351(A;A)
Alt rs121434351(A;A)
Reference Rs121434351(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754263C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002092.5,