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rs779526456

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779526456(C;T)
Make rs779526456(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position61393964
GeneTMEM216
is asnp
is mentioned by
dbSNPrs779526456
ebirs779526456
HLIrs779526456
Exacrs779526456
Varsomers779526456
Maprs779526456
PheGenIrs779526456
hapmaprs779526456
1000 genomesrs779526456
hgdprs779526456
ensemblrs779526456
gopubmedrs779526456
geneviewrs779526456
scholarrs779526456
googlers779526456
pharmgkbrs779526456
gwascentralrs779526456
openSNPrs779526456
23andMers779526456
23andMe allrs779526456
SNP Nexus

SNPshotrs779526456
SNPdbers779526456
MSV3drs779526456
GWAS Ctlgrs779526456
Max Magnitude0
ClinVar
Risk rs779526456(T;T)
Alt rs779526456(T;T)
Reference rs779526456(C;C)
Significance Pathogenic
Disease Joubert syndrome 2
Variation info
Gene TMEM216
CLNDBN Joubert syndrome 2
Reversed 0
HGVS NC_000011.9:g.61161436C>T
CLNSRC
CLNACC RCV000201742.1,