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rs541666319

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs541666319(C;C)
Make rs541666319(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position61393963
GeneTMEM216
is asnp
is mentioned by
dbSNPrs541666319
ebirs541666319
HLIrs541666319
Exacrs541666319
Varsomers541666319
Maprs541666319
PheGenIrs541666319
hapmaprs541666319
1000 genomesrs541666319
hgdprs541666319
ensemblrs541666319
gopubmedrs541666319
geneviewrs541666319
scholarrs541666319
googlers541666319
pharmgkbrs541666319
gwascentralrs541666319
openSNPrs541666319
23andMers541666319
23andMe allrs541666319
SNP Nexus

SNPshotrs541666319
SNPdbers541666319
MSV3drs541666319
GWAS Ctlgrs541666319
Max Magnitude0
ClinVar
Risk rs541666319(C;C)
Alt rs541666319(C;C)
Reference rs541666319(T;T)
Significance Probable-Pathogenic
Disease Joubert syndrome 2
Variation info
Gene TMEM216
CLNDBN Joubert syndrome 2
Reversed 0
HGVS NC_000011.9:g.61161435T>C
CLNSRC
CLNACC RCV000201571.1,