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rs797046045

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046045(G;T)
Make rs797046045(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93755851
GeneTMEM67
is asnp
is mentioned by
dbSNPrs797046045
ebirs797046045
HLIrs797046045
Exacrs797046045
Varsomers797046045
Maprs797046045
PheGenIrs797046045
hapmaprs797046045
1000 genomesrs797046045
hgdprs797046045
ensemblrs797046045
gopubmedrs797046045
geneviewrs797046045
scholarrs797046045
googlers797046045
pharmgkbrs797046045
gwascentralrs797046045
openSNPrs797046045
23andMers797046045
23andMe allrs797046045
SNP Nexus

SNPshotrs797046045
SNPdbers797046045
MSV3drs797046045
GWAS Ctlgrs797046045
Max Magnitude0
ClinVar
Risk rs797046045(T;T)
Alt rs797046045(T;T)
Reference rs797046045(G;G)
Significance Probable-Pathogenic
Disease not specified Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN not specified Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94768079G>T
CLNSRC
CLNACC RCV000192720.1, RCV000201747.1,