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rs397514726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514726(G;T)
Make rs397514726(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135457593
GeneAHI1
is asnp
is mentioned by
dbSNPrs397514726
ebirs397514726
HLIrs397514726
Exacrs397514726
Varsomers397514726
Maprs397514726
PheGenIrs397514726
hapmaprs397514726
1000 genomesrs397514726
hgdprs397514726
ensemblrs397514726
gopubmedrs397514726
geneviewrs397514726
scholarrs397514726
googlers397514726
pharmgkbrs397514726
gwascentralrs397514726
openSNPrs397514726
23andMers397514726
23andMe allrs397514726
SNP Nexus

SNPshotrs397514726
SNPdbers397514726
MSV3drs397514726
GWAS Ctlgrs397514726
Max Magnitude0
ClinVar
Risk rs397514726(A,T;A,T)
Alt rs397514726(A,T;A,T)
Reference rs397514726(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135778731C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054427.4,