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rs793888505

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs793888505(G;T)
Make rs793888505(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position201629728
GeneTMEM237
is asnp
is mentioned by
dbSNPrs793888505
ebirs793888505
HLIrs793888505
Exacrs793888505
Varsomers793888505
Maprs793888505
PheGenIrs793888505
hapmaprs793888505
1000 genomesrs793888505
hgdprs793888505
ensemblrs793888505
gopubmedrs793888505
geneviewrs793888505
scholarrs793888505
googlers793888505
pharmgkbrs793888505
gwascentralrs793888505
openSNPrs793888505
23andMers793888505
23andMe allrs793888505
SNP Nexus

SNPshotrs793888505
SNPdbers793888505
MSV3drs793888505
GWAS Ctlgrs793888505
Max Magnitude0
ClinVar
Risk rs793888505(T;T)
Alt rs793888505(T;T)
Reference rs793888505(G;G)
Significance Pathogenic
Disease Joubert syndrome 14
Variation info
Gene TMEM237
CLNDBN Joubert syndrome 14
Reversed 1
HGVS NC_000002.11:g.202494451C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024180.4,