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rs267607114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607114(A;A)
Make rs267607114(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93793256
GeneTMEM67
is asnp
is mentioned by
dbSNPrs267607114
ebirs267607114
HLIrs267607114
Exacrs267607114
Varsomers267607114
Maprs267607114
PheGenIrs267607114
hapmaprs267607114
1000 genomesrs267607114
hgdprs267607114
ensemblrs267607114
gopubmedrs267607114
geneviewrs267607114
scholarrs267607114
googlers267607114
pharmgkbrs267607114
gwascentralrs267607114
openSNPrs267607114
23andMers267607114
23andMe allrs267607114
SNP Nexus

SNPshotrs267607114
SNPdbers267607114
MSV3drs267607114
GWAS Ctlgrs267607114
Max Magnitude0
ClinVar
Risk rs267607114(A;A)
Alt rs267607114(A;A)
Reference rs267607114(G;G)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94805484G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001440.5,