Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514713(C;C)
Make rs397514713(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496834
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs397514713
ebirs397514713
HLIrs397514713
Exacrs397514713
Varsomers397514713
Maprs397514713
PheGenIrs397514713
hapmaprs397514713
1000 genomesrs397514713
hgdprs397514713
ensemblrs397514713
gopubmedrs397514713
geneviewrs397514713
scholarrs397514713
googlers397514713
pharmgkbrs397514713
gwascentralrs397514713
openSNPrs397514713
23andMers397514713
23andMe allrs397514713
SNP Nexus

SNPshotrs397514713
SNPdbers397514713
MSV3drs397514713
GWAS Ctlgrs397514713
Max Magnitude0
ClinVar
Risk rs397514713(C;C)
Alt rs397514713(C;C)
Reference rs397514713(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 16
Variation info
Gene TBC1D24
CLNDBN Early infantile epileptic encephalopathy 16
Reversed 0
HGVS NC_000016.9:g.2546835T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000050233.4,