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rs267607118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607118(C;T)
Make rs267607118(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93755044
GeneTMEM67
is asnp
is mentioned by
dbSNPrs267607118
ebirs267607118
HLIrs267607118
Exacrs267607118
Varsomers267607118
Maprs267607118
PheGenIrs267607118
hapmaprs267607118
1000 genomesrs267607118
hgdprs267607118
ensemblrs267607118
gopubmedrs267607118
geneviewrs267607118
scholarrs267607118
googlers267607118
pharmgkbrs267607118
gwascentralrs267607118
openSNPrs267607118
23andMers267607118
23andMe allrs267607118
SNP Nexus

SNPshotrs267607118
SNPdbers267607118
MSV3drs267607118
GWAS Ctlgrs267607118
Max Magnitude0
ClinVar
Risk rs267607118(T;T)
Alt rs267607118(T;T)
Reference rs267607118(C;C)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94767272C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001456.4,