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rs387907133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907133(C;T)
Make rs387907133(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61368600
GeneTMEM138
is asnp
is mentioned by
dbSNPrs387907133
ebirs387907133
HLIrs387907133
Exacrs387907133
Varsomers387907133
Maprs387907133
PheGenIrs387907133
hapmaprs387907133
1000 genomesrs387907133
hgdprs387907133
ensemblrs387907133
gopubmedrs387907133
geneviewrs387907133
scholarrs387907133
googlers387907133
pharmgkbrs387907133
gwascentralrs387907133
openSNPrs387907133
23andMers387907133
23andMe allrs387907133
SNP Nexus

SNPshotrs387907133
SNPdbers387907133
MSV3drs387907133
GWAS Ctlgrs387907133
Max Magnitude0
ClinVar
Risk rs387907133(T;T)
Alt rs387907133(T;T)
Reference rs387907133(C;C)
Significance Pathogenic
Disease Joubert syndrome 16
Variation info
Gene TMEM138
CLNDBN Joubert syndrome 16
Reversed 0
HGVS NC_000011.9:g.61136072C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024188.3,