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rs267607104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607104(C;C)
Make rs267607104(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496899
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs267607104
ebirs267607104
HLIrs267607104
Exacrs267607104
Varsomers267607104
Maprs267607104
PheGenIrs267607104
hapmaprs267607104
1000 genomesrs267607104
hgdprs267607104
ensemblrs267607104
gopubmedrs267607104
geneviewrs267607104
scholarrs267607104
googlers267607104
pharmgkbrs267607104
gwascentralrs267607104
openSNPrs267607104
23andMers267607104
23andMe allrs267607104
SNP Nexus

SNPshotrs267607104
SNPdbers267607104
MSV3drs267607104
GWAS Ctlgrs267607104
Max Magnitude0
ClinVar
Risk rs267607104(C;C)
Alt rs267607104(C;C)
Reference rs267607104(T;T)
Significance Pathogenic
Disease Myoclonic epilepsy
Variation info
Gene TBC1D24
CLNDBN Myoclonic epilepsy, familial infantile
Reversed 0
HGVS NC_000016.9:g.2546900T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000067.4,