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

rs397514714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514714(A;A)
Make rs397514714(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496616
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs397514714
ebirs397514714
HLIrs397514714
Exacrs397514714
Varsomers397514714
Maprs397514714
PheGenIrs397514714
hapmaprs397514714
1000 genomesrs397514714
hgdprs397514714
ensemblrs397514714
gopubmedrs397514714
geneviewrs397514714
scholarrs397514714
googlers397514714
pharmgkbrs397514714
gwascentralrs397514714
openSNPrs397514714
23andMers397514714
23andMe allrs397514714
SNP Nexus

SNPshotrs397514714
SNPdbers397514714
MSV3drs397514714
GWAS Ctlgrs397514714
Max Magnitude0
ClinVar
Risk rs397514714(A;A)
Alt rs397514714(A;A)
Reference rs397514714(C;C)
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.2546617C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000050234.5,