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rs267607105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607105(C;T)
Make rs267607105(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2500822
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs267607105
ebirs267607105
HLIrs267607105
Exacrs267607105
Varsomers267607105
Maprs267607105
PheGenIrs267607105
hapmaprs267607105
1000 genomesrs267607105
hgdprs267607105
ensemblrs267607105
gopubmedrs267607105
geneviewrs267607105
scholarrs267607105
googlers267607105
pharmgkbrs267607105
gwascentralrs267607105
openSNPrs267607105
23andMers267607105
23andMe allrs267607105
SNP Nexus

SNPshotrs267607105
SNPdbers267607105
MSV3drs267607105
GWAS Ctlgrs267607105
Max Magnitude0
ClinVar
Risk rs267607105(T;T)
Alt rs267607105(T;T)
Reference rs267607105(C;C)
Significance Pathogenic
Disease Myoclonic epilepsy
Variation info
Gene TBC1D24
CLNDBN Myoclonic epilepsy, familial infantile
Reversed 0
HGVS NC_000016.9:g.2550823C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000066.5,