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rs387907003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907003(A;A)
Make rs387907003(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position135448432
GeneAHI1
is asnp
is mentioned by
dbSNPrs387907003
ebirs387907003
HLIrs387907003
Exacrs387907003
Varsomers387907003
Maprs387907003
PheGenIrs387907003
hapmaprs387907003
1000 genomesrs387907003
hgdprs387907003
ensemblrs387907003
gopubmedrs387907003
geneviewrs387907003
scholarrs387907003
googlers387907003
pharmgkbrs387907003
gwascentralrs387907003
openSNPrs387907003
23andMers387907003
23andMe allrs387907003
SNP Nexus

SNPshotrs387907003
SNPdbers387907003
MSV3drs387907003
GWAS Ctlgrs387907003
Max Magnitude0
ClinVar
Risk rs387907003(A;A)
Alt rs387907003(A;A)
Reference rs387907003(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135769570C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023740.3,