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rs751517725

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs751517725(C;T)
Make rs751517725(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93803652
GeneTMEM67
is asnp
is mentioned by
dbSNPrs751517725
ebirs751517725
HLIrs751517725
Exacrs751517725
Varsomers751517725
Maprs751517725
PheGenIrs751517725
hapmaprs751517725
1000 genomesrs751517725
hgdprs751517725
ensemblrs751517725
gopubmedrs751517725
geneviewrs751517725
scholarrs751517725
googlers751517725
pharmgkbrs751517725
gwascentralrs751517725
openSNPrs751517725
23andMers751517725
23andMe allrs751517725
SNP Nexus

SNPshotrs751517725
SNPdbers751517725
MSV3drs751517725
GWAS Ctlgrs751517725
Max Magnitude0
ClinVar
Risk rs751517725(G,T;G,T)
Alt rs751517725(G,T;G,T)
Reference rs751517725(C;C)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94815880C>T
CLNSRC
CLNACC RCV000201592.1,