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rs387906270

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906270(-;-)
Make rs387906270(-;T)
Make rs387906270(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135431212
GeneAHI1
is asnp
is mentioned by
dbSNPrs387906270
ebirs387906270
HLIrs387906270
Exacrs387906270
Varsomers387906270
Maprs387906270
PheGenIrs387906270
hapmaprs387906270
1000 genomesrs387906270
hgdprs387906270
ensemblrs387906270
gopubmedrs387906270
geneviewrs387906270
scholarrs387906270
googlers387906270
pharmgkbrs387906270
gwascentralrs387906270
openSNPrs387906270
23andMers387906270
23andMe allrs387906270
SNP Nexus

SNPshotrs387906270
SNPdbers387906270
MSV3drs387906270
GWAS Ctlgrs387906270
Max Magnitude0
ClinVar
Risk rs387906270(T;T)
Alt rs387906270(T;T)
Reference rs387906270(;)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135752350_135752351insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002093.4,