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rs387907135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907135(A;G)
Make rs387907135(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61368609
GeneTMEM138
is asnp
is mentioned by
dbSNPrs387907135
dbSNP (classic)rs387907135
ClinGenrs387907135
ebirs387907135
HLIrs387907135
Exacrs387907135
Gnomadrs387907135
Varsomers387907135
LitVarrs387907135
Maprs387907135
PheGenIrs387907135
Biobankrs387907135
1000 genomesrs387907135
hgdprs387907135
ensemblrs387907135
geneviewrs387907135
scholarrs387907135
googlers387907135
pharmgkbrs387907135
gwascentralrs387907135
openSNPrs387907135
23andMers387907135
SNPshotrs387907135
SNPdbers387907135
MSV3drs387907135
GWAS Ctlgrs387907135
Max Magnitude0
ClinVar
Risk rs387907135(G;G)
Alt rs387907135(G;G)
Reference Rs387907135(A;A)
Significance Pathogenic
Disease Joubert syndrome 16
Variation info
Gene TMEM138
CLNDBN Joubert syndrome 16
Reversed 0
HGVS NC_000011.9:g.61136081A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024190.2,