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rs11230683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11230683(A;A)
Make rs11230683(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position61397797
GeneTMEM216
is asnp
is mentioned by
dbSNPrs11230683
ebirs11230683
HLIrs11230683
Exacrs11230683
Varsomers11230683
Maprs11230683
PheGenIrs11230683
hapmaprs11230683
1000 genomesrs11230683
hgdprs11230683
ensemblrs11230683
gopubmedrs11230683
geneviewrs11230683
scholarrs11230683
googlers11230683
pharmgkbrs11230683
gwascentralrs11230683
openSNPrs11230683
23andMers11230683
23andMe allrs11230683
SNP Nexus

SNPshotrs11230683
SNPdbers11230683
MSV3drs11230683
GWAS Ctlgrs11230683
GMAF0.003673
Max Magnitude0
ClinVar
Risk rs11230683(A,G,T;A,G,T)
Alt rs11230683(A,G,T;A,G,T)
Reference rs11230683(C;C)
Significance Pathogenic
Disease Meckel syndrome type 2 Joubert syndrome 2
Variation info
Gene TMEM216
CLNDBN Meckel syndrome type 2 Joubert syndrome 2
Reversed 0
HGVS NC_000011.9:g.61165269C>T
CLNSRC ClinVar
CLNACC RCV000049797.1, RCV000201650.1,


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