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rs267607119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607119(C;C)
Make rs267607119(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93808898
GeneTMEM67
is asnp
is mentioned by
dbSNPrs267607119
ebirs267607119
HLIrs267607119
Exacrs267607119
Varsomers267607119
Maprs267607119
PheGenIrs267607119
hapmaprs267607119
1000 genomesrs267607119
hgdprs267607119
ensemblrs267607119
gopubmedrs267607119
geneviewrs267607119
scholarrs267607119
googlers267607119
pharmgkbrs267607119
gwascentralrs267607119
openSNPrs267607119
23andMers267607119
23andMe allrs267607119
SNP Nexus

SNPshotrs267607119
SNPdbers267607119
MSV3drs267607119
GWAS Ctlgrs267607119
Max Magnitude0
ClinVar
Risk rs267607119(C;C)
Alt rs267607119(C;C)
Reference rs267607119(T;T)
Significance Pathogenic
Disease COACH syndrome Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN COACH syndrome Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94821126T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001445.5, RCV000001446.6,