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rs267607115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607115(C;C)
Make rs267607115(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93795503
GeneTMEM67
is asnp
is mentioned by
dbSNPrs267607115
ebirs267607115
HLIrs267607115
Exacrs267607115
Varsomers267607115
Maprs267607115
PheGenIrs267607115
hapmaprs267607115
1000 genomesrs267607115
hgdprs267607115
ensemblrs267607115
gopubmedrs267607115
geneviewrs267607115
scholarrs267607115
googlers267607115
pharmgkbrs267607115
gwascentralrs267607115
openSNPrs267607115
23andMers267607115
23andMe allrs267607115
SNP Nexus

SNPshotrs267607115
SNPdbers267607115
MSV3drs267607115
GWAS Ctlgrs267607115
Max Magnitude0
ClinVar
Risk rs267607115(C;C)
Alt rs267607115(C;C)
Reference rs267607115(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.94807731T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001449.3, RCV000201677.1,