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rs116647652

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116647652(C;T)
Make rs116647652(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93786285
GeneTMEM67
is asnp
is mentioned by
dbSNPrs116647652
ebirs116647652
HLIrs116647652
Exacrs116647652
Varsomers116647652
Maprs116647652
PheGenIrs116647652
hapmaprs116647652
1000 genomesrs116647652
hgdprs116647652
ensemblrs116647652
gopubmedrs116647652
geneviewrs116647652
scholarrs116647652
googlers116647652
pharmgkbrs116647652
gwascentralrs116647652
openSNPrs116647652
23andMers116647652
23andMe allrs116647652
SNP Nexus

SNPshotrs116647652
SNPdbers116647652
MSV3drs116647652
GWAS Ctlgrs116647652
Max Magnitude0
ClinVar
Risk rs116647652(T;T)
Alt rs116647652(T;T)
Reference rs116647652(C;C)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94798513C>T
CLNSRC
CLNACC RCV000201701.1,