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rs752362727

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752362727(C;T)
Make rs752362727(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93786255
GeneTMEM67
is asnp
is mentioned by
dbSNPrs752362727
ebirs752362727
HLIrs752362727
Exacrs752362727
Varsomers752362727
Maprs752362727
PheGenIrs752362727
hapmaprs752362727
1000 genomesrs752362727
hgdprs752362727
ensemblrs752362727
gopubmedrs752362727
geneviewrs752362727
scholarrs752362727
googlers752362727
pharmgkbrs752362727
gwascentralrs752362727
openSNPrs752362727
23andMers752362727
23andMe allrs752362727
SNP Nexus

SNPshotrs752362727
SNPdbers752362727
MSV3drs752362727
GWAS Ctlgrs752362727
Max Magnitude0
ClinVar
Risk rs752362727(T;T)
Alt rs752362727(T;T)
Reference rs752362727(C;C)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94798483C>T
CLNSRC
CLNACC RCV000201784.1,