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rs199469707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469707(C;T)
Make rs199469707(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201640915
GeneTMEM237
is asnp
is mentioned by
dbSNPrs199469707
ebirs199469707
HLIrs199469707
Exacrs199469707
Varsomers199469707
Maprs199469707
PheGenIrs199469707
hapmaprs199469707
1000 genomesrs199469707
hgdprs199469707
ensemblrs199469707
gopubmedrs199469707
geneviewrs199469707
scholarrs199469707
googlers199469707
pharmgkbrs199469707
gwascentralrs199469707
openSNPrs199469707
23andMers199469707
23andMe allrs199469707
SNP Nexus

SNPshotrs199469707
SNPdbers199469707
MSV3drs199469707
GWAS Ctlgrs199469707
Max Magnitude0
ClinVar
Risk rs199469707(T;T)
Alt rs199469707(T;T)
Reference rs199469707(C;C)
Significance Pathogenic
Disease Joubert syndrome 14 Familial aplasia of the vermis
Variation info
Gene TMEM237
CLNDBN Joubert syndrome 14 Familial aplasia of the vermis
Reversed 1
HGVS NC_000002.11:g.202505638G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024179.2, RCV000034999.1,


[PMID 17603801] Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. [PMID 22152675OA-icon.png] TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.