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rs387906269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs387906269(-;-)
Make rs387906269(-;GG)
ReferenceGRCh38 38.1/141
Chromosome6
Position135323226
GeneAHI1
is asnp
is mentioned by
dbSNPrs387906269
ebirs387906269
HLIrs387906269
Exacrs387906269
Varsomers387906269
Maprs387906269
PheGenIrs387906269
hapmaprs387906269
1000 genomesrs387906269
hgdprs387906269
ensemblrs387906269
gopubmedrs387906269
geneviewrs387906269
scholarrs387906269
googlers387906269
pharmgkbrs387906269
gwascentralrs387906269
openSNPrs387906269
23andMers387906269
23andMe allrs387906269
SNP Nexus

SNPshotrs387906269
SNPdbers387906269
MSV3drs387906269
GWAS Ctlgrs387906269
Max Magnitude0
ClinVar
Risk rs387906269(;)
Alt rs387906269(;)
Reference rs387906269(GG;GG)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135644364_135644365delCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002090.4,