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rs201108965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201108965(G;T)
Make rs201108965(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61393965
GeneTMEM216
is asnp
is mentioned by
dbSNPrs201108965
ebirs201108965
HLIrs201108965
Exacrs201108965
Varsomers201108965
Maprs201108965
PheGenIrs201108965
hapmaprs201108965
1000 genomesrs201108965
hgdprs201108965
ensemblrs201108965
gopubmedrs201108965
geneviewrs201108965
scholarrs201108965
googlers201108965
pharmgkbrs201108965
gwascentralrs201108965
openSNPrs201108965
23andMers201108965
23andMe allrs201108965
SNP Nexus

SNPshotrs201108965
SNPdbers201108965
MSV3drs201108965
GWAS Ctlgrs201108965
Max Magnitude0
ClinVar
Risk rs201108965(A,T;A,T)
Alt rs201108965(A,T;A,T)
Reference rs201108965(G;G)
Significance Pathogenic
Disease Joubert syndrome 2 Meckel syndrome type 2
Variation info
Gene TMEM216
CLNDBN Joubert syndrome 2 Meckel syndrome type 2
Reversed 0
HGVS NC_000011.9:g.61161437G>A; NC_000011.9:g.61161437G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000221.2, RCV000024013.2, RCV000000220.3,


[PMID 20036350OA-icon.png] Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.


[PMID 20512146OA-icon.png] Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.